XomeDxSlice Tool

Now Available - NEW XomeDxSlice Xpanded – Custom slice testing with trio analysis for lists >150 genes.

INSTRUCTIONS (AND TIPS)

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SELECTED GENES FOR YOUR SLICE

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Phenotypes
Dysphagia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ACOX117q25.1100%gene with protein product609751Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of nervous system morphology; Abnormality of visual evoked potentials; Autosomal recessive inheritance; Babinski sign; Bilateral sensorineural hearing impairment; Brachycephaly; CNS demyelination; Death in infancy; Decreased light- and dark-adapted electroretinogram amplitude; Depressed nasal bridge; Developmental regression; Diffuse hepatic steatosis; Dysphagia; Dystonia; EEG abnormality; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Frontal bossing; Gait disturbance; Global developmental delay; Hepatomegaly; Hyperreflexia; Hypertelorism; Hypertonia; Hypodontia; Infantile onset; Intellectual disability, progressive; Intellectual disability, severe; Inverted nipples; Irritability; Leukodystrophy; Low-set ears; Muscular hypotonia; Myopia; Neonatal hypotonia; Neurological speech impairment; No social interaction; Nystagmus; Optic atrophy; Pigmentary retinopathy; Respiratory insufficiency; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Strabismus; Tapetoretinal degeneration; Wide nasal bridge
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ACTA11q42.13100%gene with protein product102610ACTAAbnormality on pulmonary function testing; Achilles tendon contracture; Areflexia; Arthrogryposis multiplex congenita; Autophagic vacuoles; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Difficulty climbing stairs; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Foot dorsiflexor weakness; Frequent falls; Generalized hypotonia; Generalized muscle weakness; Global developmental delay; Gowers sign; Hamstring contractures; Hand muscle atrophy; Handgrip myotonia; Heterogeneous; High palate; Hip contracture; Hyperlordosis; Hyporeflexia; Increased connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limb muscle weakness; Limb-girdle muscular dystrophy; Long face; Lumbar hyperlordosis; Mask-like facies; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Muscle fiber splitting; Muscular hypotonia; Myofibrillar myopathy; Myopathic facies; Myopathy; Narrow face; Neck flexor weakness; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Phenotypic variability; Pneumonia; Polyhydramnios; Poor head control; Progressive muscle weakness; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Retrognathia; Rimmed vacuoles; Scoliosis; Skeletal muscle atrophy; Slender build; Slow progression; Spinal rigidity; Torticollis; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Wrist dropRhabdomyolysis
ACTB7p22.1100%gene with protein product102630Abnormality of metabolism/homeostasis; Achalasia; Agenesis of corpus callosum; Anteverted nares; Aortic valve stenosis; Aphasia; Aplasia/Hypoplasia of the breasts; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicuspid aortic valve; Blindness; Cataract; Cerebral cortical hemiatrophy; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coarse facial features; Cryptorchidism; Death in early adulthood; Delayed cranial suture closure; Depressed nasal tip; Downslanted palpebral fissures; Dysphagia; Dysphasia; Echolalia; Epicanthus; Euryblepharon; Externally rotated hips; Failure to thrive; Feeding difficulties; Full cheeks; Generalized dystonia; Generalized hypotonia; Global developmental delay; Growth delay; Hamartoma; Heterochromia iridis; High forehead; Highly arched eyebrow; Hydronephrosis; Hydroureter; Hypermelanotic macule; Hypertelorism; Hypoplastic scapulae; Immunodeficiency; Intellectual disability; Intellectual disability, mild; Iris coloboma; Joint stiffness; Kyphoscoliosis; Kyphosis; Large fontanelles; Lipoatrophy; Lissencephaly; Long nose; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Macroglossia; Macrogyria; Mental deterioration; Microcephaly; Micrognathia; Micromelia; Micropenis; Mild global developmental delay; Mutism; Oral cleft; Osteochondrosis; Overfolded helix; Pachygyria; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pointed chin; Polymicrogyria; Postnatal growth retardation; Prominent metopic ridge; Prominent nose; Ptosis; Retinoschisis; Retrognathia; Scoliosis; Seizures; Sensorineural hearing impairment; Short columella; Short neck; Short nose; Short stature; Shoulder girdle muscle atrophy; Skeletal dysplasia; Small for gestational age; Specific learning disability; Subcortical cerebral atrophy; Supernumerary nipple; Telecanthus; Thin upper lip vermilion; Thin vermilion border; Trigonocephaly; Wide mouth; Wide nasal bridge; Wide nose
ADD310q25.1-q25.100%gene with protein product601568ADDLAbnormal pyramidal signs; Autosomal recessive inheritance; Cognitive impairment; Dysphagia; Exotropia; Global developmental delay; Infantile onset; Microcephaly; Nystagmus; Poor speech; Spastic diplegia; Spastic tetraplegia; Supranuclear gaze palsy; Variable expressivity
AFG3L218p11.2199.9%gene with protein product604581SCA28Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dystonia; Gait ataxia; Gaze-evoked nystagmus; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Increased intramyocellular lipid droplets; Infantile onset; Limb ataxia; Lower limb hyperreflexia; Muscle weakness; Myoclonus; Oculomotor apraxia; Ophthalmoparesis; Progressive; Ptosis; Sensorimotor neuropathy; Skeletal muscle atrophy; Slow progression; Slow saccadic eye movements; Spastic ataxia; Spastic paraparesis; Spasticity; Variable expressivity
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
APP21q21.3100%gene with protein product104760AD1Abnormal social behavior; Agitation; Alzheimer disease; Autosomal dominant inheritance; Behavioral abnormality; Cerebellar hemorrhage; Cerebral amyloid angiopathy; Cerebral calcification; Cerebral cortical atrophy; Cerebral hemorrhage; Cerebral ischemia; Coma; Confusion; Decreased level of GABA in serum; Dementia; Deposits immunoreactive to beta-amyloid protein; Disinhibition; Dysphagia; Febrile seizures; Gait disturbance; Global developmental delay; Hallucinations; Headache; Heterogeneous; Hypertonia; Intellectual disability; Language impairment; Long-tract signs; Memory impairment; Migraine; Myoclonus; Neurofibrillary tangles; Paresthesia; Parkinsonism; Recurrent cerebral hemorrhage; Seizures; Sensory impairment; Stroke; Tortuous cerebral arteriesObesity
ARXq1299.99%gene with protein productPlease note spinal and bulbar muscular atrophy is associated with a repeat expansion in the AR gene which may not be detected by XomeDxSlice.313700DHTR, SBMAAbnormality of the mouth; Abnormality of the rib cage; Absent axillary hair; Absent facial hair; Absent pubic hair; Absent vas deferens; Adult onset; Aplasia of the uterus; Aplasia/Hypoplasia of the fallopian tube; Azoospermia; Bifid scrotum; Blind vagina; Bulbar palsy; Calf muscle hypertrophy; Cryptorchidism; Decreased fertility; Dysarthria; Dysphagia; Dysphonia; Elevated circulating follicle stimulating hormone level; Elevated circulating luteinizing hormone level; Elevated serum creatine phosphokinase; Erectile abnormalities; Fasciculations; Female external genitalia in individual with 46,XY karyotype; Female pseudohermaphroditism; Gait disturbance; Gonadal neoplasm; Growth abnormality; Gynecomastia; Hypogonadism; Hyporeflexia; Hypospadias; Infertility; Inguinal hernia; Labial hypoplasia; Limb muscle weakness; Male pseudohermaphroditism; Micropenis; Muscle cramps; Muscular hypotonia; Neoplasm; Nephrolithiasis; Osteoporosis; Perineal hypospadias; Peripheral neuropathy; Primary amenorrhea; Sensory neuropathy; Skeletal muscle atrophy; Slow progression; Sparse axillary hair; Sparse pubic hair; Testicular atrophy; Tremor; X-linked recessive inheritanceAplastic Anemia ; Autoimmune Disorders ; Bardet-Biedl Syndrome ; Bone Marrow Failure Syndromes ; Disorders of Sex Development; Ectodermal Dysplasia ; Heterotaxy ; Inflammatory Bowel Disease ; Muscular dystropy-dystroglycanopathy (Walker-Warburg); Nephrotic Syndrome ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis
ARXXp21.399.72%gene with protein product300382MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87Abnormal hair pattern; Abnormality of skin morphology; Abnormality of the hip bone; Abnormally large globe; Agenesis of corpus callosum; Ambiguous genitalia; Broad alveolar ridges; Choreoathetosis; Coarse facial features; Cryptorchidism; Death in infancy; Decreased testicular size; Delayed speech and language development; Developmental regression; Diarrhea; Duane anomaly; Dysarthria; Dysphagia; Dyspnea; Dystonia; EEG abnormality; Epileptic encephalopathy; Feeding difficulties in infancy; Flexion contracture; Focal dystonia; Generalized hirsutism; Generalized hypotonia; Generalized myoclonic seizures; Gliosis; Global developmental delay; Hemiplegia; High forehead; High palate; Hirsutism; Hyperconvex nail; Hyperreflexia; Hypohidrosis; Hypoplasia of penis; Hypospadias; Hypsarrhythmia; Infantile spasms; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Limb dystonia; Limb joint contracture; Lissencephaly; Long philtrum; Long upper lip; Low anterior hairline; Low-set ears; Lower limb spasticity; Malabsorption; Microcephaly; Micrognathia; Micropenis; Muscle stiffness; Muscular hypotonia; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nystagmus; Optic atrophy; Overlapping toe; Pachygyria; Profound global developmental delay; Prominent nasal bridge; Prominent supraorbital ridges; Protruding ear; Renal dysplasia; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short stature; Spastic tetraplegia; Spasticity; Specific learning disability; Status epilepticus; Strabismus; Synophrys; Tapered finger; Tetraplegia; Thin upper lip vermilion; Triangular face; Ventriculomegaly; Visual impairment; Wide anterior fontanel; Wide nasal bridge; X-linked inheritance; X-linked recessive inheritanceDisorders of Sex Development; Obesity
ASPA17p13.2100%gene with protein product608034Abnormality of visual evoked potentials; Aplasia/Hypoplasia involving the central nervous system; Autosomal recessive inheritance; Blindness; Brain atrophy; CNS demyelination; Coma; Delayed closure of the anterior fontanelle; Delayed speech and language development; Developmental regression; Dysphagia; EEG abnormality; Gastroesophageal reflux; Generalized seizures; Global developmental delay; Hearing impairment; Intellectual disability; Lethargy; Macrocephaly; Mild global developmental delay; Muscular hypotonia; Nystagmus; Opisthotonus; Optic atrophy; Seizures; Sleep disturbance; Spasticity; Visual loss
ATP1A319q13.2100%gene with protein product182350DYT12Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Blindness; Bradykinesia; Choreoathetosis; Depressivity; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Emotional lability; Encephalopathy; Episodic ataxia; Episodic generalized hypotonia; Episodic quadriplegia; Gait ataxia; Global developmental delay; Hemiparesis; Hemiplegia; Hypomimic face; Incomplete penetrance; Intellectual disability; Mental deterioration; Muscle weakness; Mutism; Nystagmus; Optic atrophy; Parkinsonism; Pes cavus; Postural instability; Progressive sensorineural hearing impairment; Progressive visual loss; Sensorineural hearing impairment; Status epilepticus; Torticollis; Truncal ataxia; Unsteady gait; Young adult onset
ATP7AXq21.199.98%gene with protein product300011MNKAbnormal carotid artery morphology; Abnormal peripheral nervous system morphology; Abnormality of the face; Abnormality of the metaphysis; Abnormality of the palate; Abnormality of the sense of smell; Abnormality of the wrist; Aplasia/Hypoplasia of the abdominal wall musculature; Arterial stenosis; Atypical scarring of skin; Behavioral abnormality; Bladder carcinoma; Bladder diverticulum; Brachycephaly; Brachydactyly; Broad clavicles; Broad ribs; Bruising susceptibility; Capitate-hamate fusion; Carotid artery tortuosity; Cerebral calcification; Chronic diarrhea; Coarse hair; Convex nasal ridge; Coxa valga; Cutis laxa; Death in childhood; Delayed cranial suture closure; Developmental regression; Dilatation; Distal amyotrophy; Distal muscle weakness; Dry skin; Dysphagia; EMG: neuropathic changes; Esophagitis; Exostoses; Fatigue; Feeding difficulties in infancy; Full cheeks; Gastroesophageal reflux; Gastroparesis; Genu valgum; Global developmental delay; Hepatitis; Hiatus hernia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperextensible skin; Hypertonia; Hypopigmentation of hair; Hypopigmentation of the skin; Hyporeflexia; Hypothermia; Inguinal hernia; Intellectual disability; Intracranial hemorrhage; Intrauterine growth retardation; Jaundice; Joint hyperflexibility; Joint laxity; Juvenile onset; Keloids; Kyphosis; Large fontanelles; Limited elbow extension; Limited knee extension; Long face; Long neck; Long philtrum; Malabsorption; Mask-like facies; Metaphyseal spurs; Metaphyseal widening; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Narrow chest; Narrow face; Nausea and vomiting; Orthostatic hypotension; Osteomalacia; Osteopenia; Osteoporosis; Pectus carinatum; Pectus excavatum; Pelvic bone exostoses; Persistent open anterior fontanelle; Pes cavus; Pes planus; Platyspondyly; Poor suck; Prolonged neonatal jaundice; Prominent occiput; Redundant skin; Rickets; Seizures; Short clavicles; Short humerus; Short palm; Short stature; Slow progression; Soft skin; Sparse hair; Spasticity; Specific learning disability; Spinal muscular atrophy; Synostosis of joints; Thickened skin; Umbilical hernia; Unsteady gait; Ureteral obstruction; Venous insufficiency; Woolly hair; Wormian bones; X-linked recessive inheritance
ATP7B13q14.3100%gene with protein product606882WNDAbnormality of the hand; Abnormality of the menstrual cycle; Acute hepatic failure; Acute hepatitis; Aggressive behavior; Aminoaciduria; Anemia; Arthralgia; Arthritis; Atypical or prolonged hepatitis; Autosomal recessive inheritance; Back pain; Bone pain; Bruising susceptibility; Chondrocalcinosis; Cirrhosis; Clumsiness; Coma; Dementia; Depressivity; Difficulty walking; Drooling; Dysarthria; Dysphagia; Dystonia; Elevated hepatic transaminases; Esophageal varix; Failure to thrive; Glycosuria; Hemolytic anemia; Hepatic failure; Hepatic steatosis; Hepatomegaly; High nonceruloplasmin-bound serum copper; Hypercalciuria; Hyperphosphaturia; Hypersexuality; Hypoparathyroidism; Increased body weight; Intellectual disability; Jaundice; Joint hypermobility; Joint swelling; Kayser-Fleischer ring; Mixed demyelinating and axonal polyneuropathy; Nephrolithiasis; Osteoarthritis; Osteomalacia; Osteoporosis; Pathologic fracture; Personality changes; Poor motor coordination; Proteinuria; Proximal muscle weakness in lower limbs; Pruritus; Renal tubular dysfunction; Splenomegaly; Thrombocytopenia; Tremor; Weight loss
ATXN16p22.3100%gene with protein productXomeDxSlice is not appropriate.601556SCA1Abnormality of extrapyramidal motor function; Adult onset; Areflexia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Chorea; Cognitive impairment; Dilated fourth ventricle; Distal amyotrophy; Dorsal column degeneration; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation with paternal anticipation bias; Hyperreflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Olivopontocerebellar atrophy; Optic atrophy; Optic disc pallor; Progressive cerebellar ataxia; Scanning speech; Slow saccadic eye movements; Spasticity; Spinocerebellar atrophy; Spinocerebellar tract degeneration; Supranuclear ophthalmoplegia; Truncal ataxia; Urinary bladder sphincter dysfunction
ATXN1022q13.3199.98%gene with protein productXomeDxSlice is not appropriate for indications of ataxia; however will be accepted for indications of kidney disease.611150SCA10Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Cerebellar atrophy; Decreased nerve conduction velocity; Dementia; Depressivity; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Gait ataxia; Genetic anticipation; Hyperreflexia; Incomplete penetrance; Incoordination; Limb ataxia; Morphological abnormality of the pyramidal tract; Nystagmus; Progressive cerebellar ataxia; Scanning speech; Seizures; Urinary incontinence; Urinary urgency
ATXN212q24.1299.04%gene with protein productXomeDxSlice is not appropriate.601517SCA2, TNRC13Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Bradykinesia; Dementia; Depressivity; Dilated fourth ventricle; Distal amyotrophy; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmetric saccades; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Gaze-evoked nystagmus; Generalized hypotonia; Generalized muscle weakness; Genetic anticipation; Hyporeflexia; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Myoclonus; Neurodegeneration; Oculomotor apraxia; Olivopontocerebellar atrophy; Ophthalmoplegia; Pain; Paralysis; Postural instability; Postural tremor; Progressive cerebellar ataxia; Respiratory failure; Rigidity; Rod-cone dystrophy; Skeletal muscle atrophy; Slow saccadic eye movements; Spasticity; Spinocerebellar tract degeneration; Urinary bladder sphincter dysfunction; Xerostomia
ATXN314q32.1298.28%gene with protein productXomeDxSlice is not appropriate.607047SCA3, MJDAbnormal electrooculogram; Absent Achilles reflex; Autosomal dominant inheritance; Babinski sign; Bradykinesia; Cerebellar atrophy; Chronic pain; Dementia; Dilated fourth ventricle; Diplopia; Distal amyotrophy; Dysmetric saccades; Dysphagia; Facial-lingual fasciculations; Genetic anticipation; Gliosis; Impaired horizontal smooth pursuit; Impaired vibratory sensation; Limb ataxia; Muscle cramps; Postural instability; Progressive; Progressive cerebellar ataxia; Proptosis; Ptosis; Rigidity; Spinocerebellar tract degeneration; Supranuclear ophthalmoplegia; Truncal ataxia; Urinary bladder sphincter dysfunction
ATXN73p14.1100%gene with protein productXomeDxSlice is not appropriate.607640SCA7Abnormality of extrapyramidal motor function; Autosomal dominant inheritance; Babinski sign; Chorea; Dysmetria; Dysphagia; Genetic anticipation with paternal anticipation bias; Macular degeneration; Olivopontocerebellar atrophy; Orofacial dyskinesia; Pigmentary retinopathy; Progressive visual loss; Slow saccadic eye movements; Spasticity; Supranuclear ophthalmoplegia
ATXN813q21.33gene with protein productXomeDxSlice is not appropriate.613289Abnormal pyramidal signs; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Dysmetric saccades; Dysphagia; Impaired smooth pursuit; Incoordination; Morphological abnormality of the pyramidal tract; Nystagmus; Peripheral neuropathy; Progressive cerebellar ataxia; Slow saccadic eye movements; Spasticity; Tremor
ATXN8OS13q21.33RNA, long non-codingXomeDxSlice is not appropriate.603680SCA8, KLHL1ASAbnormal pyramidal signs; Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Dysmetric saccades; Dysphagia; Impaired smooth pursuit; Incoordination; Morphological abnormality of the pyramidal tract; Nystagmus; Peripheral neuropathy; Progressive cerebellar ataxia; Slow saccadic eye movements; Spasticity; Tremor
BRAF7q3499.88%gene with protein product164757Abnormal aortic valve morphology; Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal heart valve morphology; Abnormal hypothalamus morphology; Abnormal mitral valve morphology; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormal visual field test; Abnormality of coagulation; Abnormality of the pulmonary artery; Abnormality of the spleen; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Absent eyelashes; Alveolar cell carcinoma; Amegakaryocytic thrombocytopenia; Anterior creases of earlobe; Anteverted nares; Aplasia/Hypoplasia of the abdominal wall musculature; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the eyebrow; Arrhythmia; Atopic dermatitis; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Bitemporal hemianopia; Brachydactyly; Brittle hair; Bronchogenic cyst; Bulbous nose; Bundle branch block; Cavernous hemangioma; Central adrenal insufficiency; Central diabetes insipidus; Cerebral calcification; Cerebral cortical atrophy; Clinodactyly; Clinodactyly of the 5th finger; Coarctation of aorta; Coarse facial features; Coarse hair; Cognitive impairment; Congenital onset; Constipation; Cryptorchidism; Cubitus valgus; Curly hair; Cystic hygroma; Decreased fertility; Deep palmar crease; Deep philtrum; Delayed skeletal maturation; Dental malocclusion; Depressed nasal bridge; Dolichocephaly; Downslanted palpebral fissures; Dry skin; Dysarthria; Dysphagia; Dystrophic fingernails; EEG abnormality; Enlarged pituitary gland; Enlarged thorax; Epicanthus; Excessive daytime somnolence; Excessive wrinkled skin; Failure to thrive; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Freckling; Frontal bossing; Full cheeks; Gastroesophageal reflux; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Growth delay; Headache; Hearing impairment; Hepatomegaly; Heterogeneous; High forehead; High palate; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperextensibility of the finger joints; Hyperextensible skin; Hyperkeratosis; Hypertelorism; Hypertonia; Hypertrophic cardiomyopathy; Hypogonadotrophic hypogonadism; Hypomelanotic macule; Hypoplasia of the frontal lobes; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Intracranial cystic lesion; Intrauterine growth retardation; Joint hyperflexibility; Kyphoscoliosis; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lymphedema; Macrocephaly; Macrotia; Male infertility; Melanocytic nevus; Micrognathia; Midface retrusion; Mitral valve prolapse; Multiple cafe-au-lait spots; Multiple lentigines; Multiple palmar creases; Multiple plantar creases; Muscle weakness; Muscular hypotonia; Myopia; Narrow forehead; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the anterior pituitary; Neurofibrosarcoma; Numerous nevi; Nystagmus; Obesity; Oculomotor apraxia; Open bite; Open mouth; Optic nerve dysplasia; Osteolysis; Osteopenia; Palmoplantar keratoderma; Papilledema; Papule; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Pectus excavatum of inferior sternum; Pituitary hypothyroidism; Polyhydramnios; Poor suck; Posteriorly rotated ears; Postnatal growth retardation; Premature birth; Progressive visual field defects; Progressive visual loss; Prolactin excess; Prominent forehead; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonic stenosis; Radial deviation of finger; Reduced factor XII activity; Reduced factor XIII activity; Relative macrocephaly; Scapular winging; Scoliosis; Seizures; Sensorineural hearing impairment; Severe sensorineural hearing impairment; Shield chest; Short neck; Short nose; Short stature; Skin nodule; Slow decrease in visual acuity; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Splenomegaly; Sprengel anomaly; Strabismus; Submucous cleft hard palate; Superior pectus carinatum; Synovitis; Tetralogy of Fallot; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Tongue thrusting; Triangular face; Underdeveloped supraorbital ridges; Ventricular septal defect; Vomiting; Webbed neck; Wide intermamillary distance; Wide nasal bridge
CACNA1A19p13.13100%gene with protein productPlease note that some forms of ataxia are associated with a repeat expansion in the CACNA1A gene which may not be detected by XomeDxSlice.601011CACNL1A4, SCA6, MHP1, MHPAbnormal vestibulo-ocular reflex; Abnormality of movement; Agitation; Anxiety; Ataxia; Athetosis; Auditory hallucinations; Autosomal dominant inheritance; Cerebellar atrophy; Cerebellar vermis atrophy; Coma; Confusion; Diplopia; Downbeat nystagmus; Drowsiness; Dysarthria; Dyscalculia; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Epileptic encephalopathy; Episodic ataxia; Esotropia; Fever; Flexion contracture; Gaze-evoked nystagmus; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hemiparesis; Hemiplegia; Hemiplegia/hemiparesis; Heterogeneous; Hyperreflexia; Hypertonia; Impaired smooth pursuit; Incomplete penetrance; Migraine; Migraine with aura; Muscle weakness; Myotonia; Nystagmus; Paresthesia; Progressive; Progressive cerebellar ataxia; Psychosis; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Tinnitus; Transient unilateral blurring of vision; Tremor; Vertigo; Vestibular dysfunction; Visual hallucinations
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CAV17q31.2100%gene with protein product601047CAVAbnormality of skin pigmentation; Abnormality of the face; Absence of subcutaneous fat; Acanthosis nigricans; Accelerated skeletal maturation; Arthralgia; Arthritis; Autoimmunity; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Broad foot; Carious teeth; Clonus; Congenital cataract; Decreased adipose tissue around neck; Diabetes mellitus; Distal sensory impairment; Dysmetria; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hirsutism; Glucose intolerance; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Hepatosplenomegaly; Hirsutism; Hypercholesterolemia; Hyperhidrosis; Hyperinsulinemia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Hypocalcemia; Hypopigmented skin patches; Incomplete penetrance; Increased pulmonary vascular resistance; Insulin resistance; Intellectual disability; Lack of facial subcutaneous fat; Large hands; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Lower limb muscle weakness; Malabsorption; Mandibular prognathia; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Nystagmus; Oliguria; Orthostatic hypotension; Osteolysis; Pancreatitis; Pigmentary retinopathy; Precocious puberty; Prominent supraorbital ridges; Pulmonary arterial hypertension; Pulmonary fibrosis; Pulmonary infiltrates; Reduced subcutaneous adipose tissue; Short stature; Skeletal muscle hypertrophy; Skin ulcer; Telangiectasia of the skin; Variable expressivity; Xerostomia
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
CCR66q27100%gene with protein product601835STRL22Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CCR66q27100%gene with protein product601835STRL22Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CDC731q31.2100%gene with protein productFormer name = HRPT2607393C1orf28, HRPT2, HRPT1Autosomal dominant inheritance; Chondrocalcinosis; Dysphagia; Elevated circulating parathyroid hormone level; Fatigue; Fibroma; Generalized osteoporosis; Hoarse voice; Hypercalcemia; Hypercalciuria; Hyperparathyroidism; Hyperphosphaturia; Hypophosphatemia; Infantile hypercalcemia; Nephrocalcinosis; Nephrolithiasis; Osteopenia; Osteoporosis; Parathyroid adenoma; Parathyroid carcinoma; Polydipsia; Primary hyperparathyroidism; Shortened QT interval; Somatic mutation; Uterine leiomyoma; Weight loss
CHAT10q11.2399.99%gene with protein product118490Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased miniature endplate potentials; Dysphagia; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Fatigable weakness; Generalized hypotonia due to defect at the neuromuscular junction; Heterogeneous; Ophthalmoparesis; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency due to muscle weakness; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Weak cry
CHCHD1022q11.2398.57%gene with protein product615903C22orf16Amyotrophic lateral sclerosis; Anxiety; Areflexia; Ataxia; Autosomal dominant inheritance; Babinski sign; Bulbar palsy; Depressivity; Difficulty walking; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Exercise intolerance; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal lobe dementia; Frontotemporal dementia; Generalized muscle weakness; Hammertoe; Hyporeflexia; Increased serum lactate; Muscle cramps; Neck flexor weakness; Neurodegeneration; Pain; Paralysis; Pes cavus; Pes planus; Progressive; Proximal muscle weakness in lower limbs; Respiratory failure; Short stature; Skeletal muscle atrophy; Slow progression; Spasticity; Spinal muscular atrophy; Xerostomia
CHD78q12.2100%gene with protein product608892CRGAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormal lymphocyte morphology; Abnormality of body height; Abnormality of female internal genitalia; Abnormality of the soft palate; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Alopecia; Anophthalmia; Anosmia; Anterior hypopituitarism; Anxiety; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Bifid scrotum; Breast hypoplasia; Choanal atresia; Chorioretinal coloboma; Chronic diarrhea; Cleft lip; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed eruption of teeth; Delayed puberty; Delayed skeletal maturation; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Dry skin; Duodenal atresia; Dysphagia; Edema; Eosinophilia; Erectile abnormalities; Erythroderma; Esophageal atresia; Eunuchoid habitus; External ear malformation; Facial asymmetry; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Female hypogonadism; Fever; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Hepatomegaly; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the ovary; Hypoplasia of the semicircular canal; Hypoplasia of the uterus; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Hypothyroidism; Impotence; Increased female libido; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphadenopathy; Lymphopenia; Malar flattening; Male hypogonadism; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Non-obstructive azoospermia; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Osteopenia; Osteoporosis; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Pneumonia; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Pruritus; Ptosis; Pulmonic stenosis; Reduced bone mineral density; Secondary amenorrhea; Sensorineural hearing impairment; Severe combined immunodeficiency; Short stature; Sparse body hair; Splenomegaly; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Thickened skin; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Wide intermamillary distanceDisorders of Sex Development; VACTERL Association
CHMP2B3p11.2100%gene with protein product609512Abnormal brain FDG positron emission tomography; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Areflexia; Astrocytosis; Autosomal dominant inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Collectionism; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal release signs; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Generalized muscle weakness; Grammar-specific speech disorder; Hyperorality; Hyperreflexia; Hyporeflexia; Inappropriate behavior; Irritability; Lack of insight; Loss of speech; Memory impairment; Muscle cramps; Mutism; Myoclonus; Neurodegeneration; Neuronal loss in central nervous system; Orofacial dyskinesia; Pain; Paralysis; Perseveration; Personality changes; Poor speech; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restlessness; Restrictive behavior; Rigidity; Skeletal muscle atrophy; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Urinary incontinence; Xerostomia
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRNA12q31.1100%gene with protein product100690CHRNAAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Cystic hygroma; Decreased miniature endplate potentials; Decreased size of nerve terminals; Depressed nasal ridge; Dysarthria; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Fatigable weakness; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized muscle weakness; Gowers sign; High palate; Hypertelorism; Hypoplastic heart; Increased susceptibility to fractures; Infantile onset; Intermittent episodes of respiratory insufficiency due to muscle weakness; Intrauterine growth retardation; Joint dislocation; Low-set ears; Macrotia; Malignant hyperthermia; Micrognathia; Motor delay; Multiple pterygia; Neck muscle weakness; Neonatal hypotonia; Onset; Ophthalmoparesis; Ophthalmoplegia; Polyhydramnios; Poor suck; Prolonged miniature endplate currents; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency due to muscle weakness; Scoliosis; Short finger; Thin ribs; Type 2 muscle fiber atrophy; Variable expressivity; Vertebral fusion; Weak cry
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRND2q37.1100%gene with protein product100720ACHRDAbnormal cervical curvature; Abnormal facial shape; Akinesia; Amyoplasia; Autosomal dominant inheritance; Autosomal recessive inheritance; Cleft palate; Congenital onset; Cystic hygroma; Depressed nasal ridge; Dysphagia; Easy fatigability; Edema; Epicanthus; Facial palsy; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; High palate; Hypertelorism; Hypoplastic heart; Inability to walk; Increased susceptibility to fractures; Infantile onset; Intrauterine growth retardation; Joint dislocation; Low-set ears; Malignant hyperthermia; Micrognathia; Multiple pterygia; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Progressive; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Short finger; Thin ribs; Vertebral fusion
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CHRNE17p13.2100%gene with protein product100725Abnormality of the immune system; Apneic episodes precipitated by illness, fatigue, stress; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Congenital onset; Decreased fetal movement; Decreased miniature endplate potentials; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Feeding difficulties in infancy; Generalized hypotonia; Generalized hypotonia due to defect at the neuromuscular junction; Gowers sign; High palate; Infantile onset; Limb muscle weakness; Long face; Mandibular prognathia; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Neonatal hypotonia; Nonprogressive; Ophthalmoparesis; Ophthalmoplegia; Poor suck; Ptosis; Respiratory distress; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Sudden episodic apnea; Type 2 muscle fiber atrophy; Variable expressivity; Weak cry
CLCN17q3499.98%gene with protein product118425Autosomal dominant inheritance; Autosomal recessive inheritance; Childhood onset; Dysphagia; EMG abnormality; EMG: myotonic runs; Handgrip myotonia; Muscle hypertrophy of the lower extremities; Myotonia; Phenotypic variability
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COL7A13p21.31100%gene with protein product120120EBDCT, EBD1, EBR1Abnormal blistering of the skin; Abnormal toenail morphology; Abnormality of metabolism/homeostasis; Abnormality of the anus; Abnormality of the fingernails; Abnormality of the vagina; Absent fingernail; Absent toenail; Alopecia; Anemia; Ankyloglossia; Aplasia cutis congenita; Atrophic scars; Atypical scarring of skin; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharitis; Carious teeth; Cataract; Cheilitis; Congenital localized absence of skin; Congenital onset; Conjunctivitis; Constipation; Corneal erosion; Corneal scarring; Delayed puberty; Dermal atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Ectropion; Esophageal stricture; Flexion contracture; Fragile skin; Growth delay; Hyperkeratosis; Hypopigmented skin patches; Hypoplasia of dental enamel; Loss of eyelashes; Malnutrition; Microglossia; Milia; Mitten deformity; Nail dysplasia; Nail dystrophy; Narrow mouth; Oral mucosal blisters; Osteopenia; Osteoporosis; Papule; Pretibial blistering; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Skin erosion; Skin nodule; Skin vesicle; Spontaneous esophageal perforation; Squamous cell carcinoma; Squamous cell carcinoma of the skin; Thin skin; Tongue atrophy
COLQ3p25.1100%gene with protein product603033Abnormality of the immune system; Autosomal recessive inheritance; Decreased muscle mass; Decreased size of nerve terminals; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Fatigable weakness; Feeding difficulties in infancy; Generalized hypotonia; Generalized muscle weakness; Hyperlordosis; Infantile onset; Limb muscle weakness; Ophthalmoparesis; Prolonged miniature endplate currents; Ptosis; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Type 2 muscle fiber atrophy; Weak cry
COQ49q34.11100%gene with protein product612898Autosomal recessive inheritance; Dysphagia; Increased serum lactate; Neonatal hypotonia; Respiratory insufficiency
CTGF6q23.2100%gene with protein product121009Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CTGF6q23.2100%gene with protein product121009Arthralgia; Arthritis; Autoimmunity; Carious teeth; Dyspareunia; Dysphagia; Dyspnea; Flexion contracture; Gastroesophageal reflux; Hypopigmented skin patches; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Osteolysis; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
CTNS17p13.2100%gene with protein product606272Abnormality of the voice; Abnormality of thyroid physiology; Abnormality of vitamin D metabolism; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Constipation; Corneal crystals; Decreased plasma carnitine; Dehydration; Delayed puberty; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated intracellular cystine; Episodic metabolic acidosis; Exocrine pancreatic insufficiency; Failure to thrive; Failure to thrive in infancy; Frontal bossing; Generalized aminoaciduria; Genu valgum; Glycosuria; Growth abnormality; Growth delay; Hepatomegaly; Hyperchloremic metabolic acidosis; Hyperphosphaturia; Hypohidrosis; Hypokalemia; Hyponatremia; Hypophosphatemia; Hypophosphatemic rickets; Hypopigmentation of hair; Hypopigmentation of the skin; Juvenile onset; Low-molecular-weight proteinuria; Male infertility; Metaphyseal widening; Microscopic hematuria; Myopathy; Nephrolithiasis; Photophobia; Pigmentary retinopathy; Polydipsia; Polyuria; Primary hypothyroidism; Progressive neurologic deterioration; Proteinuria; Rachitic rosary; Recurrent corneal erosions; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Renal tubular dysfunction; Retinal pigment epithelial mottling; Retinopathy; Rickets; Short stature; Skeletal muscle atrophy; Splenomegaly; Stage 5 chronic kidney disease; Tubulointerstitial abnormality; Visual impairment; Vomiting
DDHD28p11.2399.94%gene with protein product615003SAMWD1Abnormality of the periventricular white matter; Autosomal recessive inheritance; Babinski sign; Dysarthria; Dysphagia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Progressive; Short stature; Spastic paraplegia; Strabismus; Telecanthus
DKK110q21.1100%gene with protein product605189Abnormality of the clivus; Abnormality of the eleventh cranial nerve; Abnormality of the twelfth cranial nerve; Abnormality of the vestibulocochlear nerve; Anteriorly placed odontoid process; Areflexia of upper limbs; Arnold-Chiari type I malformation; Bone pain; Cervical C2/C3 vertebral fusion; Cranial nerve compression; Cranial nerve paralysis; Distal peripheral sensory neuropathy; Dysesthesia; Dysphagia; Gait ataxia; Gait disturbance; Increased intracranial pressure; Lower limb hyperreflexia; Myelopathy; Neck pain; Nystagmus; Osteoporosis; Progressive cerebellar ataxia; Recurrent fractures; Recurrent paroxysmal headache; Scoliosis; Sensory impairment; Small posterior fossa; Stiff neck; Syringomyelia; Tinnitus; Vertebral compression fractures; Vertigo; Vocal cord paralysis
DMPK19q13.32100%gene with protein productXomeDxSlice is not appropriate.605377DM1, DMAbnormal hair quantity; Abnormality of cardiovascular system morphology; Abnormality of the endocrine system; Autosomal dominant inheritance; Cataract; Cerebral atrophy; Cholelithiasis; Decreased fetal movement; Dysphagia; EMG abnormality; Excessive daytime sleepiness; Facial diplegia; Facial palsy; Feeding difficulties in infancy; First degree atrioventricular block; Frontal balding; Generalized hypotonia; Hypertonia; Hypogonadism; Intellectual disability, progressive; Intellectual disability, severe; Mask-like facies; Muscle weakness; Muscular hypotonia; Myotonia; Obsessive-compulsive trait; Polyhydramnios; Respiratory distress; Skeletal muscle atrophy; Testicular atrophy
DNAJB67q36.3100%gene with protein product611332LGMD1DAdult onset; Autosomal dominant inheritance; Difficulty climbing stairs; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Generalized muscle weakness; Gowers sign; Increased variability in muscle fiber diameter; Muscle fiber splitting; Muscular dystrophy; Pelvic girdle muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression; Waddling gaitRhabdomyolysis
DNAJB67q36.3100%gene with protein product611332LGMD1DAdult onset; Autosomal dominant inheritance; Difficulty climbing stairs; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Generalized muscle weakness; Gowers sign; Increased variability in muscle fiber diameter; Muscle fiber splitting; Muscular dystrophy; Pelvic girdle muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression; Waddling gaitRhabdomyolysis
EBF310q26.3100%gene with protein product607407Apraxia; Astigmatism; Autosomal dominant inheritance; Broad chin; Broad nasal tip; Cryptorchidism; Deep philtrum; Deeply set eye; Delayed speech and language development; Downslanted palpebral fissures; Downturned corners of mouth; Dysarthria; Dysmetria; Dysphagia; Epicanthus; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High forehead; Horizontal eyebrow; Hypertelorism; Infantile onset; Intellectual disability; Inverted nipples; Long face; Low-set ears; Micropenis; Myopathic facies; Oval face; Overfolded helix; Posteriorly rotated ears; Prominent forehead; Prominent nasal bridge; Short chin; Stereotypy; Strabismus; Synophrys; Thin upper lip vermilion; Triangular face; Vesicoureteral reflux
ECM11q21.2100%gene with protein product602201Abnormal blistering of the skin; Abnormality of the gingiva; Abnormality of the skin; Acne; Aggressive behavior; Alopecia of scalp; Autosomal recessive inheritance; Bilateral intracranial calcifications; Dysphagia; Dystonia; Hallucinations; High palate; Hoarse voice; Hyperkeratosis; Memory impairment; Microglossia; Papule; Paranoia; Patchy alopecia; Pustule; Recurrent respiratory infections; Scarring; Seizures; Subcutaneous nodule; Thick lower lip vermilion; Tongue nodules; Verrucae
ERLIN28p11.23100%gene with protein product611605C8orf2, SPFH2, SPG18Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Absent speech; Autosomal recessive inheritance; Babinski sign; Dysphagia; Gait disturbance; Gait imbalance; High palate; Hyperreflexia; Kyphosis; Loss of speech; Lower limb muscle weakness; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Scoliosis; Skeletal muscle atrophy; Slow progression; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Strabismus; Upper limb spasticity
FBXL46q16.1-q16.2100%gene with protein product605654Autosomal recessive inheritance; Cerebral atrophy; Concave nasal ridge; Delayed myelination; Downslanted palpebral fissures; Dysphagia; Encephalopathy; Epicanthus; Everted lower lip vermilion; Failure to thrive; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Growth delay; Hyperalaninemia; Hypoplasia of the corpus callosum; Hypospadias; Increased serum lactate; Lactic acidosis; Leukodystrophy; Microcephaly; Mitochondrial respiratory chain defects; Narrow face; Phenotypic variability; Protruding ear; Seizures; Skeletal muscle atrophy; Small for gestational age; Thick eyebrow
FERMT120p12.399.78%gene with protein product607900C20orf42Abnormal blistering of the skin; Abnormal pigmentation of the oral mucosa; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of skin pigmentation; Abnormality of the preputium; Amniotic constriction ring; Ankyloglossia; Aplasia/Hypoplasia of the skin; Autosomal recessive inheritance; Camptodactyly of finger; Carious teeth; Cheilitis; Colitis; Corneal erosion; Cutaneous photosensitivity; Dermal atrophy; Diffuse skin atrophy; Dysphagia; Dystrophic fingernails; Dystrophic toenail; Eczema; Erythema; Esophageal stricture; Esophagitis; Finger syndactyly; Fragile skin; Gingival bleeding; Gingivitis; Hypopigmented skin patches; Ichthyosis; Irregular hyperpigmentation; Narrow mouth; Oral leukoplakia; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papule; Periodontitis; Phimosis; Poikiloderma; Premature loss of primary teeth; Pustule; Recurrent skin infections; Ridged nail; Skin ulcer; Spotty hyperpigmentation; Spotty hypopigmentation; Symblepharon; Telangiectases in sun-exposed and nonexposed skin; Telangiectasia of the skin; Thin skin; Turricephaly; Urticaria; XerostomiaPalmoplantar keratoderma plus congenital ichthyosis
FLAD11q21.3100%gene with protein product610595Autosomal recessive inheritance; Dysphagia; Exercise intolerance; Fatty replacement of skeletal muscle; Feeding difficulties; Generalized hypotonia; Myopathy; Organic aciduria; Phenotypic variability; Proximal muscle weakness; Respiratory insufficiencyRhabdomyolysis
FTL19q13.33100%gene with protein product134790Abnormality of metabolism/homeostasis; Anarthria; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Blepharospasm; Bradykinesia; Cataract; Cavitation of the basal ganglia; Chorea; Choreoathetosis; Congenital nuclear cataract; Decreased serum ferritin; Dementia; Disinhibition; Dysarthria; Dysphagia; Dysphonia; Dystonia; Emotional lability; Gait disturbance; Hyperreflexia; Hypomimic face; Increased serum ferritin; Laryngeal dystonia; Mutism; Neurodegeneration; Optic atrophy; Orofacial dyskinesia; Parkinsonism; Phenotypic variability; Progressive; Retinal degeneration; Rigidity; Spastic diplegia; Spasticity; Tremor
GABRD1p36.3399.97%gene with protein product137163Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GBA1q2299.84%gene with protein productIncluded in this XomeDxSlice test, but please note that many disease alleles are not detectable by XomeDxSlice.606463GLUCAbdominal pain; Abnormal aortic arch morphology; Abnormal pattern of respiration; Adult onset; Akinesia; Anemia; Anorexia; Anteverted nares; Aortic valve calcification; Apathy; Apnea; Arthrogryposis multiplex congenita; Ascites; Aseptic necrosis; Ataxia; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Bulbar signs; Calcification of the aorta; Cardiomegaly; Cerebral atrophy; Congenital nonbullous ichthyosiform erythroderma; Cough; Death in infancy; Decreased beta-glucocerebrosidase protein and activity; Decreased body weight; Decreased fetal movement; Delayed puberty; Delayed skeletal maturation; Dementia; Depressed nasal bridge; Depressivity; Desquamation of skin soon after birth; Dysphagia; Dyspnea; Dystonia; Ectropion; Encephalopathy; Epistaxis; Erlenmeyer flask deformity of the femurs; Esotropia; Everted lower lip vermilion; Everted upper lip vermilion; Failure to thrive; Fatigue; Feeding difficulties; Fetal akinesia sequence; Flexion contracture; Gait disturbance; Generalized myoclonic seizures; Gingival bleeding; Global developmental delay; Hearing impairment; Hepatic failure; Hepatomegaly; High palate; Horizontal nystagmus; Horizontal supranuclear gaze palsy; Hydrocephalus; Hydrops fetalis; Hyperkeratosis; Hyperpigmentation of the skin; Hyperreflexia; Hypersplenism; Hypertelorism; Hypertonia; Hypokinesia; Hypometric horizontal saccades; Increased antibody level in blood; Increased bone mineral density; Increased susceptibility to fractures; Interstitial pulmonary abnormality; Intracranial hemorrhage; Intrauterine growth retardation; Kyphosis; Low-set ears; Low-set, posteriorly rotated ears; Macular atrophy; Microcephaly; Micrognathia; Microtia; Mitral valve calcification; Motor delay; Multiple myeloma; Muscular hypotonia; Myoclonus; Narrow mouth; Neonatal death; Neurological speech impairment; Nonimmune hydrops fetalis; Oculomotor apraxia; Opacification of the corneal stroma; Open mouth; Ophthalmoplegia; Opisthotonus; Osteolysis; Osteopenia; Pancytopenia; Pathologic fracture; Pes cavus; Petechiae; Phenotypic variability; Polyhydramnios; Premature birth; Progressive neurologic deterioration; Protuberant abdomen; Pulmonary arterial hypertension; Recurrent aspiration pneumonia; Recurrent respiratory infections; Respiratory distress; Reticular hyperpigmentation; Retrognathia; Rigidity; Seizures; Short nose; Short stature; Slowed horizontal saccades; Spastic paraparesis; Spasticity; Splenomegaly; Stillbirth; Strabismus; Supranuclear ophthalmoplegia; Thoracic hypoplasia; Thrombocytopenia; Triangular face; Trismus; Vascular calcification; Ventriculomegaly; Vertebral compression fracturesPalmoplantar keratoderma plus congenital ichthyosis
GCH114q22.297.74%gene with protein product600225GCH, DYT5, DYT14Abnormality of eye movement; Abnormality of the substantia nigra; Anxiety; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brisk reflexes; Childhood onset; Choreoathetosis; Decreased CSF homovanillic acid; Depressivity; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Fatigue; Gait ataxia; Global developmental delay; Hearing impairment; Heterogeneous; Hyperkinesis; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Lethargy; Limb dystonia; Limb hypertonia; Lower limb hyperreflexia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Pes cavus; Phenotypic variability; Postural tremor; Progressive neurologic deterioration; Rigidity; Scoliosis; Seizures; Severe muscular hypotonia; Sleep disturbance; Talipes equinovarus; Torticollis; Transient hyperphenylalaninemia; Tremor; Variable expressivity
GFPT12p13.399.97%gene with protein product138292GFPTAbnormality of the immune system; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Decreased fetal movement; Decreased muscle mass; Decreased size of nerve terminals; Dental malocclusion; Dysarthria; Dysphagia; Easy fatigability; EMG: decremental response of compound muscle action potential to repetitive nerve stimulation; Facial palsy; Fatigable weakness; Feeding difficulties; Generalized hypotonia; Gowers sign; High palate; Infantile onset; Juvenile onset; Long face; Mandibular prognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscular hypotonia; Neck muscle weakness; Nonprogressive; Ophthalmoparesis; Proximal amyotrophy; Ptosis; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Strabismus; Type 2 muscle fiber atrophy; Variable expressivity; Waddling gait; Weak cry
GJB1Xq13.1100%gene with protein product304040CMTX1, CMTXAbnormal nerve conduction velocity; Abnormality of the cerebral white matter; Achilles tendon contracture; Areflexia; Axonal degeneration; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal upper limb amyotrophy; Dysarthria; Dysphagia; Hyporeflexia; Impaired pain sensation; Incomplete penetrance; Motor aphasia; Motor delay; Onion bulb formation; Paraparesis; Pes cavus; Sensory neuropathy; Slow progression; Toe walking; Tremor; X-linked dominant inheritance; X-linked recessive inheritance
GMPPA2q3599.97%gene with protein product615495Achalasia; Adrenal insufficiency; Alacrima; Autosomal recessive inheritance; Dysautonomia; Dysphagia; Feeding difficulties; Generalized hyperpigmentation; Global developmental delay; Intellectual disability; Palmoplantar keratoderma; Seizures; Short stature; Visual impairment
GNS12q14.399.7%gene with protein product607664Absent speech; Anteverted nares; Asymmetric septal hypertrophy; Autosomal recessive inheritance; Cellular metachromasia; Coarse facial features; Coarse hair; Depressed nasal bridge; Diarrhea; Drooling; Dysarthria; Dysostosis multiplex; Dysphagia; Flexion contracture; Frontal bossing; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hirsutism; Hyperactivity; Intellectual disability; Joint stiffness; Low-set ears; Ovoid thoracolumbar vertebrae; Progressive; Prominent forehead; Recurrent upper respiratory tract infections; Seizures; Short neck; Sleep disturbance; Splenomegaly; Synophrys; Thick eyebrow; Thick lower lip vermilion; Thickened ribs; Wide mouth
GRIN2D19q13.3399.59%gene with protein product602717NMDAR2DAutosomal dominant inheritance; Cortical visual impairment; Dysphagia; Epileptic encephalopathy; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Infantile onset; Microcephaly; Muscular hypotonia of the trunk; Pes planus; Seizures
GUCY1A14q32.199.93%gene with protein product139396GUC1A3, GUCY1A3Achalasia; Autosomal recessive inheritance; Dysphagia; Hypertension; Impotence; Moyamoya phenomenon; Stroke; Variable expressivity
HGSNAT8p11.21-p11.99.95%gene with protein product610453TMEM76Abnormal electroretinogram; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Anteverted nares; Asymmetric septal hypertrophy; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Cataract; Cellular metachromasia; Coarse facial features; Coarse hair; Conductive hearing impairment; Constriction of peripheral visual field; Dense calvaria; Diarrhea; Dolichocephaly; Dysostosis multiplex; Dysphagia; Everted lower lip vermilion; Glaucoma; Growth abnormality; Hearing impairment; Heparan sulfate excretion in urine; Hepatomegaly; Hernia; Hirsutism; Hyperactivity; Hyperinsulinemia; Hypogonadism; Hypoplasia of penis; Intellectual disability; Joint stiffness; Keratoconus; Kyphoscoliosis; Loss of speech; Motor delay; Motor deterioration; Nyctalopia; Nystagmus; Obesity; Ophthalmoplegia; Optic atrophy; Ovoid thoracolumbar vertebrae; Photophobia; Progressive night blindness; Recurrent upper respiratory tract infections; Retinal atrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Sleep disturbance; Splenomegaly; Synophrys; Thickened ribs; Variable expressivity; Wide nasal bridge
HLA-B6p21.3399.17%gene with protein productXomeDxSlice is not appropriate.142830ASAbdominal pain; Abnormal aortic valve morphology; Abnormal blistering of the skin; Abnormal pattern of respiration; Abnormality of neutrophils; Acantholysis; Acne; Anemia; Anorexia; Arthralgia; Arthritis; Ascending tubular aorta aneurysm; Chest pain; Confusion; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Gait disturbance; Gangrene; Gastrointestinal hemorrhage; Hemiparesis; Hyperhidrosis; Hypertensive crisis; Hypertrophic cardiomyopathy; Immunologic hypersensitivity; Inflammatory abnormality of the eye; Macule; Meningitis; Migraine; Muscle weakness; Myalgia; Myocardial infarction; Nausea and vomiting; Oral ulcer; Orchitis; Papule; Photophobia; Pulmonary arterial hypertension; Recurrent aphthous stomatitis; Seizures; Skin ulcer; Subcutaneous nodule; Vasculitis; Venous thrombosis; Weight loss
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HLA-DRB16p21.3297.56%gene with protein productXomeDxSlice is not appropriate.142857HLA-DR1BAbnormal blistering of the skin; Abnormal rapid eye movement sleep; Abnormality of vision; Arthralgia; Arthritis; Autoimmunity; Carious teeth; Cataplexy; Chest pain; Cough; Diabetes mellitus; Dyspareunia; Dysphagia; Dyspnea; Eczema; Elevated C-reactive protein level; Elevated erythrocyte sedimentation rate; Erythema; Erythema nodosum; Excessive daytime sleepiness; Excessive daytime somnolence; Fatigue; Fever; Flexion contracture; Gastroesophageal reflux; Hallucinations; Hypopigmented skin patches; Increase in T cell count; Insomnia; Joint swelling; Juvenile rheumatoid arthritis; Leukopenia; Lymphadenopathy; Lymphoma; Macule; Malabsorption; Mediastinal lymphadenopathy; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Night sweats; Oliguria; Osteolysis; Psoriasiform dermatitis; Pulmonary fibrosis; Pulmonary infiltrates; Recurrent infections; Skin rash; Skin ulcer; Splenomegaly; Telangiectasia of the skin; Thrombocytopenia; Transient global amnesia; Urticaria; Uveitis; Weight loss; Xerostomia
HPCA1p35.1100%gene with protein product142622Autosomal recessive inheritance; Blepharospasm; Dysarthria; Dysphagia; Juvenile onset; Slow progression; Torsion dystonia; Torticollis; Tremor
HPRT1Xq26.2-q26.396.85%gene with protein product308000HPRTAbnormality of extrapyramidal motor function; Abnormality of movement; Anemia; Behavioral abnormality; Choreoathetosis; Dysarthria; Dysphagia; Dystonia; Generalized hypotonia; Gout; Hematuria; Hemiplegia/hemiparesis; Hyperreflexia; Hyperuricosuria; Intellectual disability; Intellectual disability, mild; Intellectual disability, moderate; Megaloblastic anemia; Motor delay; Nephrolithiasis; Opisthotonus; Podagra; Renal insufficiency; Short stature; Spasticity; Testicular atrophy; Vomiting; X-linked recessive inheritance
IKZF17p12.210.34%gene with protein productLow coverage on XomeDx platform 603023ZNFN1A1Abnormal blistering of the skin; Abnormality of neutrophils; Acantholysis; Autosomal dominant inheritance; B lymphocytopenia; Decreased antibody level in blood; Diarrhea; Dysphagia; Erythema; Excessive salivation; Fatigue; Fever; Incomplete penetrance; Macule; Nausea and vomiting; Recurrent bacterial infections; Weight lossAutoimmune Disorders ; Common Variable Immune Deficiency
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
IRF57q32.1100%gene with protein product607218Abnormality of lipid metabolism; Abnormality of the intrahepatic bile duct; Abnormality of the thyroid gland; Antinuclear antibody positivity; Arthralgia; Arthritis; Autoimmunity; Biliary cirrhosis; Carious teeth; Cirrhosis; Conjugated hyperbilirubinemia; Dermatographic urticaria; Dyspareunia; Dysphagia; Dyspnea; Elevated alkaline phosphatase; Flexion contracture; Gastroesophageal reflux; Hepatic failure; Hepatic fibrosis; Hepatocellular carcinoma; Hyperpigmentation of the skin; Hypopigmented skin patches; Increased IgM level; Jaundice; Malabsorption; Mucosal telangiectasiae; Muscle weakness; Narrow foramen obturatorium; Nausea and vomiting; Oliguria; Onychomycosis; Orthostatic hypotension; Osteolysis; Portal hypertension; Pruritus; Pulmonary fibrosis; Pulmonary infiltrates; Skin ulcer; Telangiectasia of the skin; Xerostomia
ITGB417q25.1100%gene with protein product147557Abdominal distention; Abnormality of skin pigmentation; Abnormality of the genitourinary system; Abnormality of the stomach; Anemia; Anonychia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Camptodactyly of finger; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Dehydration; Dysphagia; Ectropion; Elevated maternal serum alpha-fetoprotein; Esophageal atresia; Failure to thrive; Fragile nails; Fragile skin; Glomerulosclerosis; Hematuria; Heterogeneous; Hydronephrosis; Hypodontia; Hypoplasia of dental enamel; Intestinal atresia; Intractable diarrhea; Junctional split; Limitation of joint mobility; Milia; Nail dysplasia; Nail dystrophy; Nausea and vomiting; Oral mucosal blisters; Palmar hyperhidrosis; Palmoplantar blistering; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Recurrent skin infections; Renal duplication; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Skin erosion; Sparse body hair; Ureterocele; Urethral stricture; Urinary bladder inflammationNephrotic Syndrome ; Palmoplantar keratoderma plus congenital ichthyosis
KAT6B10q22.299.98%gene with protein product605880MYST4Abnormal bleeding; Abnormal dermatoglyphics; Abnormal hair quantity; Abnormal platelet function; Abnormal pulmonary valve morphology; Abnormality of coagulation; Abnormality of the antihelix; Abnormality of the cheek; Abnormality of the spleen; Agenesis of corpus callosum; Aplasia/Hypoplasia of the abdominal wall musculature; Arrhythmia; Arthrogryposis multiplex congenita; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid uvula; Bilateral single transverse palmar creases; Blepharophimosis; Brachydactyly; Bulbous nose; Camptodactyly of finger; Clinodactyly of the 5th finger; Clitoral hypertrophy; Coarse facial features; Coarse hair; Colpocephaly; Congenital hip dislocation; Cryptorchidism; Cystic hygroma; Delayed eruption of teeth; Delayed skeletal maturation; Delayed speech and language development; Downslanted palpebral fissures; Dysarthria; Dysphagia; Ectopic thyroid; Enlarged labia minora; Enlarged thorax; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fine hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatomegaly; High forehead; High palate; Hip contracture; Hydronephrosis; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplastic ilia; Hypoplastic inferior pubic rami; Hypoplastic ischia; Hypothyroidism; Intellectual disability; Intellectual disability, progressive; Joint hyperflexibility; Knee flexion contracture; Laryngomalacia; Long nose; Long philtrum; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Micropenis; Midface retrusion; Multicystic kidney dysplasia; Muscle weakness; Muscular hypotonia; Patellar aplasia; Patellar dislocation; Patent ductus arteriosus; Pectus carinatum; Pectus excavatum; Periventricular gray matter heterotopia; Polyhydramnios; Posteriorly rotated ears; Prominent nasal bridge; Prominent nose; Prominent occiput; Proptosis; Ptosis; Pulmonary artery stenosis; Pulmonary hypoplasia; Recurrent respiratory infections; Retrognathia; Scoliosis; Scrotal hypoplasia; Seizures; Severe short stature; Short palm; Short palpebral fissure; Short phalanx of finger; Short stature; Sloping forehead; Sparse scalp hair; Specific learning disability; Strabismus; Submucous cleft hard palate; Talipes equinovarus; Thick lower lip vermilion; Thickened helices; Thickened nuchal skin fold; Thyroid agenesis; Thyroid hypoplasia; Triangular face; Ventricular septal defect; Webbed neck; Wide intermamillary distance; Wide noseDisorders of Sex Development; Ectodermal Dysplasia
KCNAB21p36.31100%gene with protein product601142Absent speech; Agenesis of corpus callosum; Autism; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
KCND31p13.2100%gene with protein product605411SCA22, SCA19Autosomal dominant inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Gait ataxia; Gaze-evoked horizontal nystagmus; Hyporeflexia; Intermittent microsaccadic pursuits; Limb ataxia; Myoclonus; Palpitations; Postural tremor; Progressive cerebellar ataxia; Slow progression; Truncal ataxia
KCNK98q24.3100%gene with protein product605874Abnormal facial shape; Autosomal dominant inheritance; Broad eyebrow; Dysphagia; Feeding difficulties in infancy; High palate; Highly arched eyebrow; Intellectual disability; Muscular hypotonia; Narrow forehead; Sacral dimple; Short philtrum; Submucous cleft soft palate; Thick eyebrow
KIAA0319L1p34.3100%gene with protein product613535Autoimmunity; Dysphagia; Gastroesophageal reflux; Hypopigmented skin patches; Mucosal telangiectasiae; Narrow foramen obturatorium; Nausea and vomiting; Skin ulcer; Telangiectasia of the skin
KIF5A12q13.3100%gene with protein product602821SPG10Ankle clonus; Athetosis; Autosomal dominant inheritance; Babinski sign; Chorea; Congenital onset; Cortical visual impairment; Delayed myelination; Developmental stagnation; Distal sensory impairment; Dysphagia; Feeding difficulties; Generalized hypotonia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Knee clonus; Lower limb muscle weakness; Microcephaly; Nystagmus; Pes cavus; Phenotypic variability; Progressive; Progressive leukoencephalopathy; Ptosis; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
KIT4q1299.96%gene with protein product164920PBTAbnormal blistering of the skin; Abnormality of metabolism/homeostasis; Abnormality of the ear; Absent pigmentation of the ventral chest; Acute myeloid leukemia; Aganglionic megacolon; Autosomal dominant inheritance; Chronic myelogenous leukemia; Chronic myelomonocytic leukemia; Constipation; Cryptorchidism; Cutaneous mastocytosis; Dysphagia; Eosinophilia; Erythema; Erythroderma; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Gonadal dysgenesis; Heterochromia iridis; Hypermelanotic macule; Hyperpigmentation of the skin; Hypopigmented skin patches; Intestinal obstruction; Large hands; Macule; Mastocytosis; Myelodysplasia; Nausea and vomiting; Neoplasm; Neoplasm of the stomach; Neurofibromas; Partial albinism; Piebaldism; Profuse pigmented skin lesions; Pruritus; Sarcoma; Somatic mutation; Sporadic; Subcutaneous nodule; Telangiectasia macularis eruptiva perstans; Teratoma; Thickened skin; Urticaria; White eyebrow; White eyelashes; White forelockBone Marrow Failure Syndromes ; Waardenburg Syndrome
KLHL403p22.1100%gene with protein product615340KBTBD5Abnormality of the thorax; Dysphagia; Facial palsy; Fetal akinesia sequence; Flexion contracture; Hypokinesia; Myofibrillar myopathy; Nemaline bodies; Respiratory failureRhabdomyolysis
LBR1q42.1299.94%gene with protein product60002411 pairs of ribs; Abnormal foot bone ossification; Abnormal joint morphology; Abnormal leukocyte morphology; Abnormal lung lobation; Abnormal ossification involving the femoral head and neck; Abnormal pelvis bone ossification; Abnormal vertebral ossification; Abnormality of cholesterol metabolism; Abnormality of chromosome segregation; Abnormality of the calcaneus; Abnormality of the gastric mucosa; Abnormality of the scapula; Abnormality of the vertebral spinous processes; Absent or minimally ossified vertebral bodies; Absent toenail; Anterior rib punctate calcifications; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Barrel-shaped chest; Biliary cirrhosis; Bone marrow hypocellularity; Bowing of the long bones; Brachydactyly; Broad palm; Calcinosis; Calcinosis cutis; Calvarial skull defect; Cardiomegaly; Cystic hygroma; Decreased skull ossification; Depressed nasal bridge; Diaphyseal thickening; Disproportionate short-limb short stature; Dysphagia; Elevated alkaline phosphatase; Elevated hepatic transaminases; Epiphyseal stippling; Extramedullary hematopoiesis; Fatigue; Fever; Flared metaphysis; Gastroesophageal reflux; Gastrointestinal hemorrhage; Global developmental delay; Hepatic calcification; Hepatomegaly; Hepatosplenomegaly; High forehead; Horizontal sacrum; Hyperbilirubinemia; Hypertelorism; Hypoplasia of the maxilla; Hypoplastic fingernail; Hypoplastic vertebral bodies; Hyposegmentation of neutrophil nuclei; Intestinal malrotation; Irregular hyperpigmentation; Jaundice; Keratoconjunctivitis sicca; Laryngeal calcification; Lethal skeletal dysplasia; Lip telangiectasia; Long clavicles; Low-set ears; Lymphedema; Macrocephaly; Malar flattening; Mesomelia; Metaphyseal cupping; Micrognathia; Micromelia; Midface retrusion; Misalignment of teeth; Mucosal telangiectasiae; Multiple prenatal fractures; Myalgia; Narrow chest; Neonatal death; Nonimmune hydrops fetalis; Omphalocele; Palmar telangiectasia; Pancreatic islet-cell hyperplasia; Patchy variation in bone mineral density; Platyspondyly; Pleural effusion; Polydactyly; Polyhydramnios; Postaxial foot polydactyly; Postaxial hand polydactyly; Preeclampsia; Prominent forehead; Pruritus; Pulmonary hypoplasia; Punctate vertebral calcifications; Raynaud phenomenon; Rhizomelia; Sandal gap; Sclerodactyly; Scleroderma; Sclerosis of skull base; Severe hydrops fetalis; Severe short-limb dwarfism; Short diaphyses; Short phalanx of finger; Short ribs; Skin rash; Skin ulcer; Splenomegaly; Steatorrhea; Sternal punctate calcifications; Stillbirth; Supernumerary vertebral ossification centers; Telangiectasia of the skin; Tracheal calcification; Ulnar deviation of the hand; Xerostomia
LIFR5p13.199.51%gene with protein product151443Abnormal metaphyseal trabeculation; Abnormality of dental enamel; Abnormality of vision; Absent patellar reflexes; Adducted thumb; Apnea; Asthma; Autosomal recessive inheritance; Blotching pigmentation of the skin; Broad ischia; Camptodactyly of finger; Contracture of the proximal interphalangeal joint of the 5th finger; Dysautonomia; Dysphagia; Elbow flexion contracture; Enlarged joints; Episodic fever; Feeding difficulties; Feeding difficulties in infancy; Femoral bowing; Flared metaphysis; Flexion contracture of toe; Frontal bossing; Generalized hypotonia; Genu valgum; Hoarse voice; Hyperhidrosis; Hypohidrosis; Hypoplastic iliac body; Impaired pain sensation; Intrauterine growth retardation; Knee flexion contracture; Lacrimation abnormality; Low-set ears; Malar flattening; Metaphyseal rarefaction; Metaphyseal widening; Micrognathia; Micromelia; Midface retrusion; Myotonia; Nasal speech; Oligohydramnios; Opacification of the corneal stroma; Osteopenia; Osteoporosis; Paresthesia; Pathologic fracture; Pulmonary arterial hypertension; Pulmonary arterial medial hypertrophy; Pulmonary hypoplasia; Pursed lips; Recurrent fractures; Respiratory distress; Respiratory insufficiency; Scoliosis; Short neck; Short nose; Short palpebral fissure; Short phalanx of finger; Short stature; Short tibia; Single transverse palmar crease; Skeletal dysplasia; Smooth tongue; Square face; Talipes; Talipes equinovarus; Talipes valgus; Thickened cortex of long bones; Thin ribs; Thin skin; Tibial bowing; Trismus; Ulnar deviation of finger; Wide nasal base
MAP2K219p13.3100%gene with protein product601263PRKMK2Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormal heart valve morphology; Abnormal ventricular septum morphology; Abnormality of lateral ventricle; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the sternum; Abnormality of the thorax; Abnormality of the ulna; Abnormality of vision; Absent eyebrow; Anteverted nares; Aplasia/Hypoplasia of the eyebrow; Atrial septal defect; Biparietal narrowing; Brittle hair; Cavernous hemangioma; Cerebellar hypoplasia; Coarse facial features; Congenital cataract; Cryptorchidism; Deep palmar crease; Depressed nasal bridge; Downslanted palpebral fissures; Dry skin; Dysphagia; Dystrophic fingernails; EEG abnormality; Epicanthus; Excessive wrinkled skin; Failure to thrive in infancy; Feeding difficulties in infancy; Fine hair; Frontal bossing; Full cheeks; Generalized hyperpigmentation; Global developmental delay; Heat intolerance; High forehead; High palate; Hyperextensible skin; Hyperhidrosis; Hypertelorism; Hypertrophic cardiomyopathy; Hypoplasia of the corpus callosum; Hypoplasia of the zygomatic bone; Ichthyosis; Intellectual disability; Long face; Long palpebral fissure; Long philtrum; Low posterior hairline; Low-set, posteriorly rotated ears; Macrocephaly; Macrotia; Multiple cafe-au-lait spots; Multiple lentigines; Muscular hypotonia; Myopia; Narrow forehead; Nystagmus; Optic nerve hypoplasia; Palmoplantar keratoderma; Pectus excavatum; Premature birth; Prolonged bleeding time; Ptosis; Pulmonic stenosis; Scoliosis; Short neck; Short nose; Short stature; Slow-growing hair; Sparse hair; Sparse or absent eyelashes; Specific learning disability; Strabismus; Telecanthus; Thickened helices; Underdeveloped supraorbital ridges; Webbed neck
MAPT17q21.31100%gene with protein product157140DDPAC, MAPTLAbnormal brain FDG positron emission tomography; Abnormal pyramidal signs; Abnormality of the cerebral white matter; Adult onset; Aggressive behavior; Akinesia; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Axial dystonia; Blurred vision; Bradykinesia; Collectionism; Dementia; Depressivity; Diplopia; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Echolalia; EEG with continuous slow activity; Emotional blunting; Eyelid apraxia; Falls; Frontal lobe dementia; Frontolimbic dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait imbalance; Gliosis; Grammar-specific speech disorder; Granulovacuolar degeneration; Heterogeneous; Hyperorality; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Kyphoscoliosis; Lack of insight; Language impairment; Loss of speech; Memory impairment; Morphological abnormality of the pyramidal tract; Mutism; Neurofibrillary tangles; Neuronal loss in central nervous system; Ophthalmoparesis; Parkinsonism; Perseveration; Personality changes; Photophobia; Polyphagia; Poor speech; Primitive reflex; Restlessness; Restrictive behavior; Retrocollis; Rigidity; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Supranuclear gaze palsy; Temporal cortical atrophy; Thickened nuchal skin fold; Tremor
MATR35q31.2100%gene with protein product164015MPD2Abnormal lower motor neuron morphology; Abnormal upper motor neuron morphology; Abnormality of the nasopharynx; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Aspiration; Autosomal dominant inheritance; Bowing of the vocal cords; Bulbar palsy; Bulbar signs; Decreased nerve conduction velocity; Depressivity; Distal muscle weakness; Dysarthria; Dysphagia; Dyspnea; Elevated serum creatine phosphokinase; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Hoarse voice; Hyperreflexia; Muscle cramps; Neurodegeneration; Pain; Paralysis; Respiratory failure; Respiratory insufficiency due to muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Variable expressivity; Xerostomia
MECP2Xq28100%gene with protein product300005RTT, MRX16, MRX79Abnormal T-wave; Abnormality of chromosome segregation; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of the antitragus; Abnormality of the dentition; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Anxiety; Aplasia/Hypoplasia of the cerebellum; Apnea; Apraxia; Ataxia; Autism; Autistic behavior; Babinski sign; Blepharophimosis; Brachycephaly; Bruxism; Cachexia; Camptodactyly of finger; Central hypoventilation; Cerebral cortical atrophy; Chorea; Choreoathetosis; Clinodactyly of the 5th finger; Congenital onset; Constipation; Cryptorchidism; Delayed skeletal maturation; Delayed speech and language development; Dementia; Depressed nasal bridge; Depressivity; Developmental regression; Drooling; Dysphagia; Dysphasia; Dystonia; EEG abnormality; Encephalopathy; Epicanthus; Everted lower lip vermilion; Excessive salivation; Facial hypotonia; Failure to thrive; Feeding difficulties in infancy; Fine hair; Gait apraxia; Gait ataxia; Gait disturbance; Gastroesophageal reflux; Global developmental delay; Hearing impairment; Hernia of the abdominal wall; High palate; Hyperreflexia; Hypospadias; Infantile muscular hypotonia; Intellectual disability; Intellectual disability, mild; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Intermittent hyperventilation; Kyphosis; Long philtrum; Low-set ears; Macrocephaly; Macroorchidism; Macrotia; Malar flattening; Microcephaly; Micrognathia; Midface retrusion; Motor deterioration; Muscular hypotonia of the trunk; Myoclonus; Narrow mouth; Nephrolithiasis; Neurological speech impairment; Parkinsonism; Pectus excavatum; Pes cavus; Polymicrogyria; Poor eye contact; Postnatal microcephaly; Progressive; Progressive microcephaly; Progressive spasticity; Prolonged QTc interval; Psychosis; Ptosis; Recurrent respiratory infections; Respiratory insufficiency; Rigidity; Scoliosis; Seizures; Severe global developmental delay; Short foot; Short neck; Short stature; Shuffling gait; Skeletal muscle atrophy; Slow progression; Spastic gait; Spasticity; Stereotypy; Tented upper lip vermilion; Thick vermilion border; Tremor; Truncal ataxia; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose; X-linked dominant inheritance; X-linked recessive inheritance
MECR1p35.3100%gene with protein product608205Ataxia; Autosomal recessive inheritance; Chorea; Craniofacial dystonia; Dysarthria; Dyskinesia; Dysphagia; Gait disturbance; Myoclonus; Nystagmus; Optic atrophy; Progressive; Variable expressivity; Visual impairment
MED1711q21100%gene with protein product603810CRSP6Autosomal recessive inheritance; Clonus; Diffuse cerebral atrophy; Dysphagia; Failure to thrive; Feeding difficulties; Global developmental delay; Hypsarrhythmia; Postnatal microcephaly; Progressive; Progressive microcephaly; Seizures; Spasticity
MEGF105q23.2100%gene with protein product612453Areflexia; Autosomal recessive inheritance; Camptodactyly of finger; Cleft palate; Congenital onset; Decreased fetal movement; Diaphragmatic paralysis; Difficulty running; Dysphagia; Facial palsy; Failure to thrive; High palate; Hyporeflexia; Motor delay; Nasal speech; Neonatal hypotonia; Pectus excavatum; Poor head control; Respiratory distress; Respiratory failure; Restrictive ventilatory defect; Scoliosis; Talipes equinovarus; Variable expressivityRhabdomyolysis
MFF2q36.3100%gene with protein product614785C2orf33Absent speech; Autosomal recessive inheritance; Cerebellar atrophy; Dysphagia; External ophthalmoplegia; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Inability to walk; Infantile onset; Microcephaly; Optic atrophy; Peripheral neuropathy; Progressive; Seizures; Severe muscular hypotonia; Spasticity; Visual impairment
MID1Xp22100%gene with protein product300552Abnormal heart morphology; Abnormality of the nasopharynx; Agenesis of corpus callosum; Anal atresia; Anteverted nares; Aspiration; Cleft palate; Cleft upper lip; Cryptorchidism; Dysphagia; Esophageal atresia; Frontal bossing; Gastroesophageal reflux; Global developmental delay; Heterogeneous; High palate; Hypertelorism; Hypospadias; Posterior pharyngeal cleft; Prominent forehead; Smooth philtrum; Telecanthus; Thin upper lip vermilion; Tracheoesophageal fistula; Wide nasal bridge; X-linked recessive inheritanceVACTERL Association
MMP111q22.2100%gene with protein product120353CLGAbnormal blistering of the skin; Abnormality of the anus; Absent fingernail; Absent toenail; Ankyloglossia; Blepharitis; Carious teeth; Chronic obstructive pulmonary disease; Constipation; Corneal erosion; Delayed puberty; Dermal atrophy; Dysphagia; Ectropion; Esophageal stricture; Flexion contracture; Loss of eyelashes; Milia; Mitten deformity; Narrow mouth; Osteopenia; Osteoporosis; Progressive visual loss; Pruritus; Refractory anemia; Scarring alopecia of scalp; Squamous cell carcinoma of the skinHeterotaxy
MPZ1q23.3100%gene with protein product159440CMT1, CMT1BAbnormality of the cranial nerves; Abnormality of the eye; Abnormality of the immune system; Abnormality of the respiratory system; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Cold-induced muscle cramps; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysphagia; Foot dorsiflexor weakness; Gait ataxia; Gait disturbance; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Insidious onset; Juvenile onset; Kyphoscoliosis; Motor delay; Myelin outfoldings; Neonatal hypotonia; Onion bulb formation; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Progressive sensorineural hearing impairment; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Sensory ataxia; Slow progression; Split hand; Steppage gait; Tonic pupil; Ulnar claw; Upper limb muscle weakness; Upper limb postural tremor; Variable expressivity
MYH714q11.2100%gene with protein product160760CMH1, MPD1Abnormality of metabolism/homeostasis; Abnormality of the cardiovascular system; Amyotrophy of ankle musculature; Arrhythmia; Asymmetric septal hypertrophy; Atrial fibrillation; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Chest pain; Childhood onset; Congenital onset; Congestive heart failure; Decreased fetal movement; Dilated cardiomyopathy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Failure to thrive; Fatigue; Feeding difficulties; Gait disturbance; Generalized limb muscle atrophy; Generalized muscle weakness; Heterogeneous; High palate; Hypertrophic cardiomyopathy; Imperforate tricuspid valve; Infantile onset; Long face; Lumbar hyperlordosis; Mildly elevated creatine phosphokinase; Myalgia; Narrow face; Neck muscle weakness; Neonatal hypotonia; Onset; Patent ductus arteriosus; Pes cavus; Phenotypic variability; Premature birth; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Right bundle branch block; Scapular winging; Scapuloperoneal amyotrophy; Scapuloperoneal myopathy; Scapuloperoneal weakness; Scoliosis; Slow progression; Subvalvular aortic stenosis; Sudden death; Toe extensor amyotrophy; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Waddling gait; Weak cry; Weakness of facial musculature; Weakness of long finger extensor muscles
MYH817p13.1100%gene with protein product160741Abnormality of the musculature; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Cardiac myxoma; Cutaneous syndactyly of toes; Distal arthrogryposis; Dysphagia; Facial asymmetry; Feeding difficulties; Hammertoe; Hip dislocation; Limitation of joint mobility; Metatarsus adductus; Micrognathia; Ptosis; Short stature; Symphalangism affecting the phalanges of the hand; Talipes equinovarus; Trismus
MYMK9q34.2100%gene with protein product615345TMEM8CAbnormal cardiac septum morphology; Anteverted nares; Aplasia/Hypoplasia of the tongue; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Decreased fetal movement; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Gastroesophageal reflux; Glossoptosis; Growth delay; High palate; Hypoplasia of the brainstem; Impaired ocular abduction; Intellectual disability; Long philtrum; Macrocephaly; Microcephaly; Micrognathia; Muscular hypotonia; Myopathy; Oculomotor nerve palsy; Ophthalmoplegia; Pierre-Robin sequence; Plagiocephaly; Ptosis; Respiratory insufficiency; Retrognathia; Scoliosis; Severe muscular hypotonia; Short nose; Short stature; Skeletal muscle atrophy; Talipes equinovarus; Tapered finger; Thin vermilion border; Trismus; Ventriculomegaly
MYOT5q31.299.92%gene with protein product604103TTID, LGMD1A, LGMD1Absent Achilles reflex; Achilles tendon contracture; Adult onset; Areflexia; Autophagic vacuoles; Autosomal dominant inheritance; Broad-based gait; Cardiomyopathy; Difficulty climbing stairs; Difficulty standing; Distal amyotrophy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Heterogeneous; Hip flexor weakness; Hyporeflexia; Hyporeflexia of lower limbs; Inability to walk; Increased endomysial connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limited elbow flexion; Limited knee flexion/extension; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle stiffness; Muscular dystrophy; Myalgia; Myofibrillar myopathy; Myopathy; Nasal speech; Nasal, dysarthic speech; Neck flexor weakness; Onset; Pelvic girdle muscle weakness; Polyneuropathy; Progressive distal muscle weakness; Proximal amyotrophy; Proximal muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; Variable expressivity; Waddling gaitRhabdomyolysis
NEB2q23.387.76%gene with protein product161650NEM2Abnormality of the eye; Abnormality of the rib cage; Apnea; Areflexia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Bulbar palsy; Cleft palate; Congenital contracture; Decreased fetal movement; Dysphagia; EMG: myopathic abnormalities; EMG: neuropathic changes; Facial palsy; Feeding difficulties; Frequent falls; Generalized muscle weakness; Heterogeneous; High palate; Hyperlordosis; Hyporeflexia; Infantile onset; Late-onset distal muscle weakness; Limb muscle weakness; Low-set ears; Mildly elevated creatine phosphokinase; Motor delay; Myopathic facies; Neck flexor weakness; Nemaline bodies; Neonatal hypotonia; Polyhydramnios; Proximal muscle weakness; Respiratory insufficiency due to muscle weakness; Scoliosis; Slender build; Spinal rigidity; Type 1 muscle fiber predominance; Waddling gaitRhabdomyolysis
NF117q11.2100%gene with protein product613113Abdominal wall muscle weakness; Abnormality of the cardiovascular system; Abnormality of the helix; Abnormality of the lymphatic system; Abnormality of the thorax; Astrocytoma; Autosomal dominant inheritance; Axillary freckling; Cafe-au-lait spot; Cryptorchidism; Cubitus valgus; Delayed speech and language development; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Freckling; Global developmental delay; Hydrocephalus; Hypertelorism; Hypertension; Hypertrophic cardiomyopathy; Hypoplasia of dental enamel; Inguinal freckling; Intellectual disability; Intellectual disability, mild; Juvenile myelomonocytic leukemia; Lisch nodules; Low posterior hairline; Low-set ears; Low-set, posteriorly rotated ears; Lower limb muscle weakness; Macrocephaly; Malar flattening; Microcephaly; Midface retrusion; Multiple cafe-au-lait spots; Muscle weakness; Neurofibromas; Neurofibrosarcoma; Optic nerve glioma; Overgrowth; Paraparesis; Parathyroid adenoma; Pectus excavatum of inferior sternum; Posteriorly rotated ears; Prolonged bleeding time; Prominent nasolabial fold; Ptosis; Pulmonic stenosis; Relative macrocephaly; Rhabdomyosarcoma; Scoliosis; Secundum atrial septal defect; Short neck; Short stature; Somatic mutation; Specific learning disability; Spina bifida; Spinal cord tumor; Superior pectus carinatum; Symmetric spinal nerve root neurofibromas; Webbed neckCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
NPC118q11.2100%gene with protein product607623Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fatal liver failure in infancy; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Neuronal loss in central nervous system; Onset; Phenotypic variability; Prolonged neonatal jaundice; Psychosis; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Vertical supranuclear gaze palsy
NPC214q24.3100%gene with protein product601015Abnormal cholesterol homeostasis; Ataxia; Autosomal recessive inheritance; Bone-marrow foam cells; Cataplexy; Dementia; Dysarthria; Dysphagia; Dystonia; Fetal ascites; Foam cells in visceral organs and CNS; Generalized hypotonia; Global developmental delay; Hepatomegaly; Heterogeneous; Intellectual disability; Loss of speech; Low cholesterol esterification rates; Neurofibrillary tangles; Onset; Perseveration; Prolonged neonatal jaundice; Psychosis; Respiratory failure; Sea-blue histiocytosis; Seizures; Spasticity; Splenomegaly; Stereotypy; Vertical supranuclear gaze palsy
NR4A22q22-q23100%gene with protein product601828NURR1Bradykinesia; Constipation; Dementia; Depressivity; Dysarthria; Dysphagia; Dystonia; Insidious onset; Lewy bodies; Mask-like facies; Neuronal loss in central nervous system; Parkinsonism; Personality changes; Postural instability; Progressive; Resting tremor; Rigidity; Short stepped shuffling gait; Sleep disturbance; Sporadic; Substantia nigra gliosis; Urinary urgency; Weak voice
NUP6219q13.33100%gene with protein product605815Autosomal recessive inheritance; Choreoathetosis; Developmental regression; Developmental stagnation; Dysphagia; Dystonia; Failure to thrive; Intellectual disability; Optic atrophy; Pendular nystagmus; Spasticity
OPTN10p13100%gene with protein product602432GLC1EAmyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Myopia; Neurodegeneration; Open angle glaucoma; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Tongue fasciculations; Xerostomia
PABPN114q11.299.76%gene with protein productRepeat expansion disorder detectable by XomeDxSlice.602279OPMD, PABP2Abnormality of the pharynx; Adult onset; Autosomal dominant inheritance; Distal muscle weakness; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Facial palsy; Gait disturbance; Limb muscle weakness; Mask-like facies; Myopathy; Neck muscle weakness; Ophthalmoplegia; Progressive; Progressive ptosis; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rimmed vacuoles; Spondylolisthesis
PANK220p13100%gene with protein product606157C20orf48, NBIA1Abnormal pyramidal signs; Abnormality of the foot; Acanthocytosis; Akinesia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Cerebral degeneration; Choreoathetosis; Decreased circulating low-density lipoprotein levels; Decreased muscle mass; Dementia; Depressivity; Dysarthria; Dysphagia; Dysphonia; Dystonia; Eye of the tiger anomaly of globus pallidus; Eyelid apraxia; Facial grimacing; Feeding difficulties in infancy; Gait disturbance; Global brain atrophy; Global developmental delay; Hyperactivity; Hyperpigmentation of the skin; Juvenile onset; Motor tics; Myopathy; Neurodegeneration; Obsessive-compulsive trait; Optic atrophy; Orofacial dyskinesia; Pallidal degeneration; Parkinsonism; Pigmentary retinopathy; Rapidly progressive; Retinal degeneration; Rigidity; Rod-cone dystrophy; Slow progression; Spasticity; Tremor; Urinary incontinence
PANK220p13100%gene with protein product606157C20orf48, NBIA1Abnormal pyramidal signs; Abnormality of the foot; Acanthocytosis; Akinesia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Cerebral degeneration; Choreoathetosis; Decreased circulating low-density lipoprotein levels; Decreased muscle mass; Dementia; Depressivity; Dysarthria; Dysphagia; Dysphonia; Dystonia; Eye of the tiger anomaly of globus pallidus; Eyelid apraxia; Facial grimacing; Feeding difficulties in infancy; Gait disturbance; Global brain atrophy; Global developmental delay; Hyperactivity; Hyperpigmentation of the skin; Juvenile onset; Motor tics; Myopathy; Neurodegeneration; Obsessive-compulsive trait; Optic atrophy; Orofacial dyskinesia; Pallidal degeneration; Parkinsonism; Pigmentary retinopathy; Rapidly progressive; Retinal degeneration; Rigidity; Rod-cone dystrophy; Slow progression; Spasticity; Tremor; Urinary incontinence
PCNA20p12.3100%gene with protein product176740Ataxia; Autosomal recessive inheritance; Cerebellar atrophy; Conjunctival telangiectasia; Cutaneous photosensitivity; Dysarthria; Dysphagia; Global developmental delay; Muscle weakness; Neurodegeneration; Pes cavus; Photophobia; Progressive; Progressive muscle weakness; Short stature; Unsteady gait
PDE8B5q13.399.96%gene with protein product603390Adrenal hyperplasia; Autosomal dominant inheritance; Bradykinesia; Degeneration of the striatum; Diabetes mellitus; Dysarthria; Dysdiadochokinesis; Dysphagia; Fatigue; Gait disturbance; Hypertension; Hypogonadism; Hypokinesia; Increased circulating cortisol level; Increased susceptibility to fractures; Lower limb hyperreflexia; Muscle weakness; Osteoporosis; Pigmented micronodular adrenocortical disease; Rigidity; Short stature; Skeletal muscle atrophy; Slender build; Slow progression; Striae distensae; Symmetric lesions of the basal ganglia; Thin skin
PDGFRA4q1299.88%gene with protein product173490Abnormality of the nervous system; Autosomal dominant inheritance; Constipation; Dysphagia; Endocardial fibrosis; Eosinophilia; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Hepatomegaly; Hyperpigmentation of the skin; Intestinal obstruction; Large hands; Myalgia; Myeloproliferative disorder; Nausea and vomiting; Neoplasm of the stomach; Neurofibromas; Pruritus; Pulmonary infiltrates; Restrictive cardiomyopathy; Sarcoma; Somatic mutation; Splenomegaly; Sporadic; Urticaria; Venous thrombosis
PDGFRA4q1299.88%gene with protein product173490Abnormality of the nervous system; Autosomal dominant inheritance; Constipation; Dysphagia; Endocardial fibrosis; Eosinophilia; Fatigue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Hepatomegaly; Hyperpigmentation of the skin; Intestinal obstruction; Large hands; Myalgia; Myeloproliferative disorder; Nausea and vomiting; Neoplasm of the stomach; Neurofibromas; Pruritus; Pulmonary infiltrates; Restrictive cardiomyopathy; Sarcoma; Somatic mutation; Splenomegaly; Sporadic; Urticaria; Venous thrombosis
PDP18q22.1100%gene with protein product605993PPM2CAutosomal recessive inheritance; Decreased activity of the pyruvate dehydrogenase complex; Dysphagia; Gait ataxia; Generalized hypotonia; Global developmental delay; Infantile onset; Intellectual disability; Lactic acidosis; Nystagmus; Seizures
PEX1611p11.2100%gene with protein product603360Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Cerebellar vermis atrophy; Clitoral hypertrophy; Cognitive impairment; Constipation; Constriction of peripheral visual field; Corneal opacity; Corpus callosum atrophy; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetria; Dysphagia; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Glossoptosis; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Retinal dystrophy; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraparesis; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PFN117p13.2100%gene with protein product176610Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Muscle weakness; Neurodegeneration; Pain; Paralysis; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
PLA2G622q13.1100%gene with protein product603604Abnormal pyramidal signs; Abnormality of metabolism/homeostasis; Abnormality of visual evoked potentials; Aggressive behavior; Ataxia; Autosomal recessive inheritance; Babinski sign; Bradykinesia; Cachexia; Cerebellar atrophy; Cerebral atrophy; Childhood onset; Chorea; Clumsiness; Delayed speech and language development; Depressivity; Developmental regression; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG: chronic denervation signs; Emotional lability; Feeding difficulties; Frontal bossing; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized hypotonia; Generalized muscle weakness; Gliosis; Global brain atrophy; Global developmental delay; Hearing impairment; Hyperactivity; Hyperreflexia; Impaired smooth pursuit; Impulsivity; Infantile onset; Intellectual disability; Intention tremor; Mental deterioration; Micrognathia; Morphological abnormality of the pyramidal tract; Muscular hypotonia; Neurodegeneration; Neurofibrillary tangles; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Parkinsonism; Personality changes; Phenotypic variability; Postural instability; Progressive; Prominent forehead; Rapidly progressive; Rigidity; Seizures; Short attention span; Short nose; Spastic tetraplegia; Spasticity; Strabismus; Supranuclear gaze palsy; Talipes calcaneovalgus; Tremor; Unsteady gait; Visual impairment; Visual loss
PLEC8q24.3100%gene with protein product601282EBS1, PLEC1Abnormal blistering of the skin; Abnormality of dental enamel; Abnormality of the genitourinary system; Abnormality of the stomach; Alopecia; Anemia; Anonychia; Aphasia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Bruising susceptibility; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Deeply set eye; Dehydration; Dermal atrophy; Difficulty climbing stairs; Dysphagia; Dysphasia; Echolalia; Ectropion; Elevated maternal serum alpha-fetoprotein; Elevated serum creatine phosphokinase; Esophageal atresia; Failure to thrive; Flexion contracture; Fragile skin; Generalized muscle weakness; Glomerulosclerosis; Gowers sign; Hydronephrosis; Hyperconvex fingernails; Hypoplasia of dental enamel; Hypoplastic fingernail; Increased connective tissue; Intractable diarrhea; Junctional split; Keratitis; Limitation of joint mobility; Lumbar hyperlordosis; Microtia; Milia; Motor delay; Muscle flaccidity; Muscular dystrophy; Mutism; Myopathy; Nail dysplasia; Nail dystrophy; Neonatal respiratory distress; Oculomotor nerve palsy; Onychogryposis of toenails; Ophthalmoplegia; Oral mucosal blisters; Palmoplantar hyperkeratosis; Papule; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Ptosis; Punctate keratitis; Rapidly progressive; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Short stature; Skeletal muscle atrophy; Skin erosion; Skin fragility with non-scarring blistering; Skin vesicle; Thick nail; Underdeveloped nasal alae; Ureterocele; Urethral stricture
PLP1Xq22.299.97%gene with protein product300401SPG2, PLPAbnormal pyramidal signs; Abnormality of extrapyramidal motor function; Ataxia; Babinski sign; Bowel incontinence; Cerebral dysmyelination; Choreoathetosis; Degeneration of the lateral corticospinal tracts; Delayed speech and language development; Dysarthria; Dysmetria; Dysphagia; Dystonia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Head titubation; Hyperreflexia; Infantile onset; Intellectual disability; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Microcephaly; Muscle weakness; Muscular hypotonia; Nystagmus; Optic atrophy; Pes cavus; Phenotypic variability; Progressive spastic quadriplegia; Psychomotor deterioration; Reduction of oligodendroglia; Rotary nystagmus; Scanning speech; Short stature; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraparesis; Spastic paraplegia; Spastic/hyperactive bladder; Spinocerebellar tract degeneration; Sudanophilic leukodystrophy; Tremor; X-linked recessive inheritance
PLXND13q22.199.96%gene with protein product604282Abnormality of the voice; Aplasia of the pectoralis major muscle; Brachydactyly; Corneal opacity; Dysphagia; Everted lower lip vermilion; Facial palsy; Feeding difficulties in infancy; Mask-like facies; Motor delay; Muscular hypotonia; Open mouth; Ophthalmoplegia; Ptosis; Strabismus; Talipes equinovarus
PNKD2q3599.98%gene with protein product609023Autosomal dominant inheritance; Childhood onset; Dysarthria; Dysphagia; Facial grimacing; Infantile onset; Myokymia; Paroxysmal choreoathetosis; Paroxysmal dystonia; Torticollis
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLG15q26.1100%gene with protein productVariants in the POLG gene that have a possible association with valproate-induced toxicity are not routinely reported by this test, but are available upon request.1747633-Methylglutaconic aciduria; Abdominal distention; Abdominal pain; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Abnormality of visual evoked potentials; Adult onset; Areflexia; Astrocytosis; Ataxia; Atrophic muscularis propria; Atrophy/Degeneration involving the spinal cord; Autosomal dominant inheritance; Autosomal recessive inheritance; Bile duct proliferation; Bradykinesia; Cachexia; Cataract; Cerebellar atrophy; Cerebral cortical neurodegeneration; Choreoathetosis; Cognitive impairment; Coma; Constipation; Cortical visual impairment; Cytochrome C oxidase-negative muscle fibers; Death in early adulthood; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Dementia; Demyelinating peripheral neuropathy; Depressivity; Developmental regression; Diarrhea; Dilated cardiomyopathy; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dysphagia; Dysphonia; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Epilepsia partialis continua; Ethylmalonic aciduria; Exercise intolerance; External ophthalmoplegia; Facial palsy; Failure to thrive; Focal seizures; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Gastrointestinal dysmotility; Gastroparesis; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Generalized tonic-clonic seizures; Gliosis; Global developmental delay; Hepatic failure; Hepatomegaly; Heterogeneous; Hyperalaninemia; Hypergonadotropic hypogonadism; Hypertonia; Hypointensity of cerebral white matter on MRI; Hyporeflexia; Impaired distal proprioception; Impaired distal vibration sensation; Increased CSF protein; Increased serum lactate; Increased variability in muscle fiber diameter; Infantile onset; Intermittent diarrhea; Intestinal pseudo-obstruction; Lactic acidosis; Leukoencephalopathy; Limb ataxia; Limb muscle weakness; Malabsorption; Malnutrition; Microcephaly; Micronodular cirrhosis; Microvesicular hepatic steatosis; Migraine; Mildly elevated creatine phosphokinase; Mitochondrial myopathy; Mitral regurgitation; Mitral valve prolapse; Multiple mitochondrial DNA deletions; Muscle fiber necrosis; Muscular hypotonia; Myoclonus; Nausea; Neuronal loss in central nervous system; Nystagmus; Paralysis; Paresthesia; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Poor appetite; Positive Romberg sign; Premature ovarian insufficiency; Primary amenorrhea; Progressive; Progressive external ophthalmoplegia; Progressive gait ataxia; Progressive muscle weakness; Progressive spasticity; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Resting tremor; Rigidity; Secondary amenorrhea; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Sensory ataxic neuropathy; Sensory axonal neuropathy; Skeletal muscle atrophy; Small intestinal dysmotility; Spastic paraparesis; Steppage gait; Subsarcolemmal accumulations of abnormally shaped mitochondria; Testicular atrophy; Variable expressivity; Vestibular dysfunction; Visual loss; Vomiting
POLR3A10q22.399.98%gene with protein product614258Abnormal upper motor neuron morphology; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; CNS hypomyelination; Delayed puberty; Drooling; Dysarthria; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Leukodystrophy; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Progressive; Short stature; Spasticity
POLR3B12q23.399.99%gene with protein product614366Abnormal upper motor neuron morphology; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; CNS hypomyelination; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Drooling; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysphagia; Dystonia; Global developmental delay; Gynecomastia; Horizontal nystagmus; Hypergonadotropic hypogonadism; Hyperreflexia; Hypodontia; Hypogonadotrophic hypogonadism; Hypoplasia of the corpus callosum; Impaired horizontal smooth pursuit; Intellectual disability, mild; Intention tremor; Leukodystrophy; Micropenis; Myopia; Oligodontia; Phenotypic variability; Postural tremor; Primary amenorrhea; Progressive; Short stature; Sparse axillary hair; Sparse pubic hair; Spasticity
PRDM161p36.32100%gene with protein product605557Abnormal left ventricle morphology; Absent speech; Agenesis of corpus callosum; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Congestive heart failure; Constipation; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Dilated cardiomyopathy; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Gastroesophageal reflux; Global developmental delay; High hypermetropia; Horizontal eyebrow; Intellectual disability; Left ventricular noncompaction; Long philtrum; Low-set, posteriorly rotated ears; Microcephaly; Midface retrusion; Muscular hypotonia; Narrow mouth; Pointed chin; Poor speech; Seizures; Self-injurious behavior; Short foot; Stereotypy; Strabismus; Ventriculomegaly; Wide nasal bridge
PRKCG19q13.42100%gene with protein product176980PKCG, SCA14Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Cerebellar atrophy; Depressivity; Dysarthria; Dysmetria; Dysphagia; Facial myokymia; Focal dystonia; Gait ataxia; Hyperreflexia; Impaired vibration sensation at ankles; Incomplete penetrance; Memory impairment; Mental deterioration; Nystagmus; Progressive cerebellar ataxia; Slow progression
PRKRA2q31.299.56%gene with protein product603424Abnormal pyramidal signs; Autosomal recessive inheritance; Bradykinesia; Delayed speech and language development; Dysarthria; Dysphagia; Gait disturbance; Hyperreflexia; Laryngeal dystonia; Limb dystonia; Lower limb pain; Morphological abnormality of the pyramidal tract; Motor delay; Parkinsonism; Postural tremor; Progressive; Retrocollis
PRNP20p13100%gene with protein product176640PRIP, GSS, CJDAbdominal symptom; Adult onset; Aggressive behavior; Akinetic mutism; Anxiety; Apathy; Aphasia; Apnea; Apraxia; Areflexia; Astrocytosis; Ataxia; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Babinski sign; Basal ganglia gliosis; Bradykinesia; Central nervous system degeneration; Cerebellar atrophy; Childhood onset; Chorea; Clumsiness; Confusion; Constipation; Deficit in phonologic short-term memory; Delusions; Dementia; Depressivity; Diffuse spongiform leukoencephalopathy; Diplopia; Dysarthria; Dysautonomia; Dysmetria; Dysphagia; EEG with persistent abnormal rhythmic activity; Emotional lability; Encephalopathy; Extrapyramidal muscular rigidity; Fever; Focal T2 hyperintense basal ganglia lesion; Gait ataxia; Gliosis; Global brain atrophy; Hallucinations; Hemiparesis; Hyperhidrosis; Hyperreflexia; Hypersomnia; Impaired smooth pursuit; Incoordination; Insomnia; Irritability; Jaw pain; Limb ataxia; Loss of facial expression; Lower limb muscle weakness; Memory impairment; Muscle weakness; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perseveration; Personality changes; Phenotypic variability; Poor visual behavior for age; Progressive cerebellar ataxia; Progressive extrapyramidal muscular rigidity; Progressive forgetfulness; Psychosis; Rapidly progressive; Restlessness; Rigidity; Seizures; Senile plaques; Short attention span; Sleep disturbance; Slurred speech; Spastic dysarthria; Spastic hemiparesis; Spasticity; Specific learning disability; Stroke-like episode; Supranuclear gaze palsy; Tremor; Truncal ataxia; Unsteady gait; Urinary retention; Visual impairment; Weight loss
PRPS1Xq22.399.96%gene with protein product311850DFN2Abnormal nerve conduction velocity; Absent speech; Areflexia; Areflexia of lower limbs; Ataxia; Childhood onset; Death in infancy; Decreased nerve conduction velocity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Drooling; Dysphagia; Gait disturbance; Generalized hypotonia; Global developmental delay; Gout; Growth delay; Hearing impairment; Hyperuricosuria; Immunodeficiency; Impaired pain sensation; Intellectual disability; Motor delay; Muscle mounding; Muscle weakness; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Onion bulb formation; Optic atrophy; Peripheral neuropathy; Pes cavus; Polyneuropathy; Progressive muscle weakness; Progressive visual loss; Recurrent infections; Recurrent upper respiratory tract infections; Renal insufficiency; Respiratory insufficiency; Segmental peripheral demyelination/remyelination; Seizures; Sensorineural hearing impairment; Sensory neuropathy; Skeletal muscle hypertrophy; Spinal cord posterior columns myelin loss; Tetraplegia; Uric acid nephrolithiasis; Variable expressivity; Visual impairment; Visual loss; X-linked recessive inheritance
PSAP10q22.199.99%gene with protein product176801SAP1, GLBAAbnormality of eye movement; Abnormality of glycosphingolipid metabolism; Abnormality of the periventricular white matter; Anemia; Autosomal recessive inheritance; Babinski sign; Central apnea; Cerebral dysmyelination; CNS demyelination; Congenital onset; Death in childhood; Death in infancy; Decreased nerve conduction velocity; Developmental regression; Dysarthria; Dysphagia; Dystonia; Erlenmeyer flask deformity of the femurs; Fasciculations; Feeding difficulties; Gait ataxia; Generalized clonic seizures; Generalized hypotonia; Generalized tonic-clonic seizures; Global brain atrophy; Global developmental delay; Hepatomegaly; Hepatosplenomegaly; Hyperkinesis; Hyperreflexia; Hypertonia; Hypoplasia of the corpus callosum; Hyporeflexia; Increased cerebral lipofuscin; Increased CSF protein; Infantile onset; Loss of speech; Mental deterioration; Muscle weakness; Muscular hypotonia; Myoclonus; Neuronal loss in central nervous system; Osteopenia; Peripheral demyelination; Polyneuropathy; Recurrent respiratory infections; Respiratory failure; Respiratory insufficiency; Seizures; Spastic tetraparesis; Splenomegaly; Thrombocytopenia; Urinary incontinence; Variable expressivity
PSEN114q24.2100%gene with protein product104311AD3Abnormal brain FDG positron emission tomography; Abnormal social behavior; Abnormality of extrapyramidal motor function; Abnormality of the cerebral white matter; Acne inversa; Adult onset; Aggressive behavior; Agitation; Alexia; Alzheimer disease; Amyotrophic lateral sclerosis; Anxiety; Apathy; Apraxia; Autosomal dominant inheritance; Babinski sign; Cerebral cortical atrophy; Chronic furunculosis; Collectionism; Confusion; Congestive heart failure; Dementia; Deposits immunoreactive to beta-amyloid protein; Depressivity; Dilated cardiomyopathy; Disinhibition; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphagia; Dysphasia; Dystonia; Echolalia; EEG with continuous slow activity; Emotional blunting; Frontal lobe dementia; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gliosis; Grammar-specific speech disorder; Hallucinations; Heterogeneous; Hyperorality; Hypertonia; Inappropriate behavior; Inappropriate laughter; Inappropriate sexual behavior; Irritability; Lack of insight; Language impairment; Loss of speech; Lower limb hyperreflexia; Memory impairment; Myoclonus; Neurofibrillary tangles; Neuronal loss in central nervous system; Parkinsonism; Perifolliculitis; Perseveration; Personality changes; Polyphagia; Poor speech; Primitive reflex; Rapidly progressive; Recurrent cutaneous abscess formation; Restlessness; Restrictive behavior; Seizures; Spastic tetraparesis; Spoken Word Recognition Deficit; Sporadic; Stereotypy; Syncope; Temporal cortical atrophy; Thickened nuchal skin fold
PTS11q22.399.89%gene with protein product612719Ataxia; Autosomal recessive inheritance; Bradykinesia; Choreoathetosis; Dysphagia; Dystonia; Episodic fever; Excessive daytime somnolence; Excessive salivation; Global developmental delay; Hyperphenylalaninemia; Hyperreflexia; Infantile onset; Intellectual disability, progressive; Irritability; Microcephaly; Muscular hypotonia; Muscular hypotonia of the trunk; Opisthotonus; Parkinsonism; Poor suck; Progressive neurologic deterioration; Rigidity; Seizures; Small for gestational age; Tremor
PYROXD112p12.199.6%gene with protein product617220Areflexia; Autosomal recessive inheritance; Difficulty climbing stairs; Difficulty running; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; Facial palsy; Frequent falls; Generalized amyotrophy; Gowers sign; High palate; Hyporeflexia; Micrognathia; Nasal speech; Neck muscle weakness; Nemaline bodies; Pes cavus; Pes planus; Respiratory tract infection; Scapular winging; Slow progression; Tall stature
QDPR4p15.32100%gene with protein product612676Autosomal recessive inheritance; Cerebral calcification; Choreoathetosis; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Global developmental delay; Hyperphenylalaninemia; Hypertonia; Infantile onset; Intellectual disability; Irritability; Microcephaly; Muscular hypotonia; Myoclonus; Progressive neurologic deterioration; Seizures; Tremor; Variable expressivity
QDPR4p15.32100%gene with protein product612676Autosomal recessive inheritance; Cerebral calcification; Choreoathetosis; Dysphagia; Dystonia; Episodic fever; Excessive salivation; Global developmental delay; Hyperphenylalaninemia; Hypertonia; Infantile onset; Intellectual disability; Irritability; Microcephaly; Muscular hypotonia; Myoclonus; Progressive neurologic deterioration; Seizures; Tremor; Variable expressivity
RERE1p36.2398.35%gene with protein product605226ATN1LAbsent speech; Agenesis of corpus callosum; Anteverted nares; Autism; Autistic behavior; Autosomal dominant inheritance; Blepharophimosis; Brachycephaly; Brachydactyly; Broad eyebrow; Camptodactyly of finger; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Coloboma; Constipation; Cryptorchidism; Deeply set eye; Delayed cranial suture closure; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Dysarthria; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; High hypermetropia; Horizontal eyebrow; Hypoplasia of the corpus callosum; Hypospadias; Infantile onset; Intellectual disability; Intrauterine growth retardation; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Muscular hypotonia; Narrow mouth; Optic atrophy; Pointed chin; Poor speech; Posteriorly rotated ears; Seizures; Self-injurious behavior; Short foot; Short stature; Stereotypy; Strabismus; Ventricular septal defect; Ventriculomegaly; Vesicoureteral reflux; Wide nasal bridge
REV3L6q21100%gene with protein product602776Abnormality of the voice; Aplasia of the pectoralis major muscle; Brachydactyly; Corneal opacity; Dysphagia; Everted lower lip vermilion; Facial palsy; Feeding difficulties in infancy; Mask-like facies; Motor delay; Muscular hypotonia; Open mouth; Ophthalmoplegia; Ptosis; Strabismus; Talipes equinovarus
RHBDF217q25.3100%gene with protein product614404RHBDL6, TOCAbnormality of the large intestine; Abnormality of the mediastinum; Abnormality of the mouth; Ascites; Autosomal dominant inheritance; Diffuse palmoplantar hyperkeratosis; Dysphagia; Esophageal carcinoma; Esophageal neoplasm; Gastroesophageal reflux; Gastrointestinal hemorrhage; Hepatomegaly; Nausea and vomiting; Palmoplantar keratoderma; Parakeratosis; Poor appetite; Poor suck; Weight lossPalmoplantar keratoderma plus congenital ichthyosis
RNASEH12p25.3100%gene with protein product604123Autosomal recessive inheritance; Cerebellar atrophy; Dysarthria; Dysphagia; Exercise intolerance; Increased serum lactate; Postural instability; Progressive; Progressive external ophthalmoplegia; Ptosis; Skeletal muscle atrophy; Unsteady gait
RRM2B8q22.399.95%gene with protein product604712Abdominal distention; Abdominal pain; Abnormality of retinal pigmentation; Abnormality of the cerebral white matter; Abnormality of the extraocular muscles; Abnormality of the hand; Abnormality of the mitochondrion; Aminoaciduria; Anterior hypopituitarism; Ataxia; Atrophic muscularis propria; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Demyelinating peripheral neuropathy; Depressivity; Diarrhea; Distal muscle weakness; Dysarthria; Dysphagia; Easy fatigability; Elevated hepatic transaminases; EMG abnormality; Exercise intolerance; External ophthalmoplegia; Failure to thrive; Feeding difficulties; Foot dorsiflexor weakness; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Hearing impairment; Hyperalaninemia; Increased CSF protein; Increased muscle fatiguability; Intellectual disability; Lactic acidosis; Leukoencephalopathy; Multiple mitochondrial DNA deletions; Muscular hypotonia; Nausea; Paresthesia; Peripheral axonal neuropathy; Poor appetite; Progressive; Progressive external ophthalmoplegia; Progressive intervertebral space narrowing; Progressive neurologic deterioration; Proximal tubulopathy; Ptosis; Ragged-red muscle fibers; Reduced tendon reflexes; Seizures; Sensorimotor neuropathy; Sensorineural hearing impairment; Skeletal muscle atrophy; Small intestinal dysmotility; Third degree atrioventricular block; VomitingRhabdomyolysis
RYR119q13.299.99%gene with protein productXomeDxSlice is not appropriate for pharmacogenomic analysis of this gene. 180901MHS, MHS1, CCOAbnormality of the coagulation cascade; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Congenital hip dislocation; Congenital onset; Decreased fetal movement; Difficulty running; Dilated cardiomyopathy; Dysphagia; Elevated serum creatine phosphokinase; Exercise-induced myalgia; External ophthalmoplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Fever; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Hydrops fetalis; Hyperkalemia; Hyperphosphatemia; Hypotension; Increased connective tissue; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Kyphoscoliosis; Long face; Lumbar hyperlordosis; Malignant hyperthermia; Mixed respiratory and metabolic acidosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myoglobinuria; Myopathic facies; Myopathy; Narrow face; Nemaline bodies; Neonatal hypotonia; Neonatal onset; Nonprogressive; Pes planus; Phenotypic variability; Polyhydramnios; Proximal muscle weakness; Ptosis; Pulmonary hypoplasia; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rhabdomyolysis; Rigidity; Scoliosis; Skeletal muscle atrophy; Slow progression; Tachycardia; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Variable expressivity; Weak cryRhabdomyolysis
SCARB24q21.1100%gene with protein product602257CD36L2Abdominal pain; Anemia; Anorexia; Aseptic necrosis; Autosomal recessive inheritance; Bone pain; Bruising susceptibility; Cerebellar atrophy; Delayed puberty; Delayed skeletal maturation; Dysarthria; Dysphagia; EEG with polyspike wave complexes; Focal segmental glomerulosclerosis; Gait ataxia; Generalized seizures; Gingival bleeding; Hepatomegaly; Hypersplenism; Increased bone mineral density; Intention tremor; Kyphosis; Limb ataxia; Morning myoclonic jerks; Myoclonus; Nephropathy; Nephrotic syndrome; Osteolysis; Osteopenia; Pancytopenia; Postural tremor; Proteinuria; Rapidly progressive; Renal insufficiency; Splenomegaly; Thrombocytopenia
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
SDHA5p15.33100%gene with protein product600857SDH2Abnormal mitochondria in muscle tissue; Abnormal pattern of respiration; Adrenal pheochromocytoma; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebral hemorrhage; Chest pain; CNS demyelination; Cognitive impairment; Constipation; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysarthria; Dysphagia; Dysphonia; Dystonia; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Emotional lability; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Exercise intolerance; Extraadrenal pheochromocytoma; Failure to thrive; Fatigue; Flexion contracture; Flushing; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hypotonia; Gliosis; Global developmental delay; Glomerulosclerosis; Hepatocellular necrosis; Heterogeneous; Hypercalcemia; Hyperreflexia; Hypertensive retinopathy; Hypertrichosis; Hypertrophic cardiomyopathy; Increased CSF lactate; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal obstruction; Lactic acidosis; Left ventricular noncompaction; Leukoencephalopathy; Mitochondrial inheritance; Muscle weakness; Myoclonus; Nausea; Nausea and vomiting; Neonatal hypotonia; Neoplasm of the stomach; Nystagmus; Ophthalmoplegia; Optic atrophy; Palpitations; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pigmentary retinopathy; Positive regitine blocking test; Progressive; Progressive leukoencephalopathy; Proteinuria; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Respiratory failure; Sarcoma; Seizures; Sensorineural hearing impairment; Short stature; Sinus tachycardia; Spasticity; Strabismus; Stress/infection-induced lactic acidosis; Visual impairment; Weight loss
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHB1p36.13100%gene with protein product185470SDH1, SDHAbdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated urinary catecholamines; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Endometrial carcinoma; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Incomplete penetrance; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papillary thyroid carcinoma; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Pheochromocytoma; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Uterine leiomyoma; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHC1q23.3100%gene with protein product602413PGL3Abdominal pain; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Breast carcinoma; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conjunctival hamartoma; Constipation; Cranial nerve paralysis; Dysphagia; Dysphonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Fatigue; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Goiter; Hamartomatous polyposis; Hearing impairment; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperpigmentation of the skin; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Intellectual disability; Intestinal obstruction; Large hands; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Nausea; Nausea and vomiting; Neoplasm of the gastrointestinal tract; Neoplasm of the stomach; Neurofibromas; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Positive regitine blocking test; Proteinuria; Pulsatile tinnitus; Recurrent paroxysmal headache; Sarcoma; Sinus tachycardia; Sporadic; Subcutaneous nodule; Tachycardia; Tinnitus; Urticaria; Vocal cord paralysis; Weight loss
SDHD11q23.199.87%gene with protein product602690PGL, PGL1Abdominal pain; Abnormal mitochondria in muscle tissue; Abnormality of mitochondrial metabolism; Abnormality of the penis; Adenoma sebaceum; Adrenal pheochromocytoma; Adult onset; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breast carcinoma; Cafe-au-lait spot; Cavernous hemangioma; Cerebral hemorrhage; Chemodectoma; Chest pain; Cognitive impairment; Colorectal polyposis; Conductive hearing impairment; Congenital cataract; Congestive heart failure; Conjunctival hamartoma; Cranial nerve paralysis; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dysphagia; Dysphonia; Dystonia; Elevated circulating catecholamine level; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Erythematous plaque; Exercise intolerance; Extraadrenal pheochromocytoma; Fatigue; Flexion contracture; Flushing; Furrowed tongue; Gastrointestinal hemorrhage; Gastrointestinal stroma tumor; Generalized hyperkeratosis; Global developmental delay; Glomerulosclerosis; Glomus jugular tumor; Glomus tympanicum paraganglioma; Goiter; Hamartomatous polyposis; Hearing impairment; Hemangioma; Hoarse voice; Hypercalcemia; Hyperhidrosis; Hyperreflexia; Hypertension associated with pheochromocytoma; Hypertensive retinopathy; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Intellectual disability; Intestinal carcinoid; Intestinal obstruction; Left ventricular noncompaction; Leukoencephalopathy; Lipoma; Loss of voice; Macrocephaly; Macroglossia; Macule; Melanocytic nevus; Meningioma; Mucosal telangiectasiae; Muscle weakness; Myoclonus; Nausea; Neonatal hypotonia; Neoplasm; Neoplasm of the gastrointestinal tract; Neoplasm of the thyroid gland; Night sweats; Nystagmus; Ophthalmoplegia; Optic atrophy; Palmoplantar keratoderma; Palpitations; Papilloma; Papule; Paraganglioma; Paraganglioma of head and neck; Paroxysmal vertigo; Phenotypic variability; Pheochromocytoma; Pigmentary retinopathy; Positive regitine blocking test; Progressive leukoencephalopathy; Proteinuria; Protracted diarrhea; Ptosis; Pulsatile tinnitus; Ragged-red muscle fibers; Recurrent paroxysmal headache; Renal artery stenosis; Renal cell carcinoma; Seizures; Short stature; Sinus tachycardia; Small intestine carcinoid; Spasticity; Stress/infection-induced lactic acidosis; Subcutaneous nodule; Tachycardia; Tinnitus; Uterine leiomyoma; Vagal paraganglioma; Visual impairment; Vocal cord paralysis; Weight loss
SELENON1p36.1191.56%gene with protein productFormer name = SEPN1606210RSMD1, MDRS1, SEPN1Abnormality of the rib cage; Abnormality on pulmonary function testing; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Bulbar palsy; Cardiac conduction abnormality; Centrally nucleated skeletal muscle fibers; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Dysphagia; Elbow flexion contracture; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; Hamstring contractures; Heterogeneous; High palate; High pitched voice; Hip contracture; Hyperlordosis; Hyporeflexia; Increased variability in muscle fiber diameter; Infantile onset; Limited neck flexion; Long face; Lumbar hyperlordosis; Motor delay; Muscular dystrophy; Muscular hypotonia; Myopathy; Narrow face; Nasal speech; Neck muscle weakness; Neonatal hypotonia; Nocturnal hypoventilation; Nonprogressive; Pectus excavatum; Pneumonia; Poor head control; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restrictive deficit on pulmonary function testing; Scoliosis; Short stature; Skeletal muscle atrophy; Spinal rigidity; Type 1 and type 2 muscle fiber minicore regions; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cry
SEMA3E7q21.11100%gene with protein product608166SEMAHAbnormal aortic valve morphology; Abnormal cardiac septum morphology; Abnormality of female internal genitalia; Abnormality of the soft palate; Anophthalmia; Anosmia; Anterior hypopituitarism; Aortic arch aneurysm; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the thymus; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Choanal atresia; Chorioretinal coloboma; Cleft palate; Cleft upper lip; Coloboma; Cryptorchidism; Decreased testicular size; Delayed eruption of teeth; Delayed puberty; Depressed nasal bridge; Dimple chin; Double outlet right ventricle; Downslanted palpebral fissures; Duodenal atresia; Dysphagia; Esophageal atresia; External ear malformation; Facial asymmetry; Facial palsy; Feeding difficulties; Feeding difficulties in infancy; Gastroesophageal reflux; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hearing impairment; Horseshoe kidney; Hydronephrosis; Hypocalcemia; Hypogonadotrophic hypogonadism; Hypoplasia of the semicircular canal; Hypothyroidism; Intellectual disability; Interrupted aortic arch; Iris coloboma; Labial hypoplasia; Low-set, posteriorly rotated ears; Lymphopenia; Malar flattening; Micropenis; Microphthalmia; Muscular hypotonia; Narrow face; Narrow mouth; Nystagmus; Obsessive-compulsive behavior; Optic atrophy; Overfolded helix; Parathyroid hypoplasia; Patent ductus arteriosus; Phenotypic variability; Polyhydramnios; Posterior choanal atresia; Postnatal growth retardation; Primary amenorrhea; Ptosis; Pulmonic stenosis; Short stature; Sparse axillary hair; Sparse pubic hair; Sporadic; Square face; Strabismus; Tetralogy of Fallot; Umbilical hernia; Ventricular septal defect
SERPING111q12.1100%gene with protein product606860C1NHAbdominal pain; Abnormality of salivation; Abnormality of the larynx; Angioedema; Autoimmunity; Autosomal dominant inheritance; Dermatographic urticaria; Diarrhea; Dysphagia; Edema of the dorsum of hands; Erythema; Facial edema; Intestinal edema; Laryngeal edema; Limbal edema; Nausea; Paresthesia; Peripheral axonal neuropathy; Pharyngeal edema; Systemic lupus erythematosus; Tongue edema; VomitingPrimary Immunodeficiency
SIK121q22.3100%gene with protein product605705SNF1LKAbnormality of skin morphology; Absent speech; Autosomal dominant inheritance; Developmental regression; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Feeding difficulties; Focal tonic seizures; Generalized myoclonic seizures; Generalized tonic-clonic seizures; Global developmental delay; Hyperreflexia; Hypsarrhythmia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Poor suck; Recurrent respiratory infections; Respiratory distress
SKI1p36.33-p36.99.98%gene with protein product164780Abdominal wall muscle weakness; Abnormal aortic valve morphology; Abnormality of the pinna; Absent speech; Agenesis of corpus callosum; Anteverted nares; Aortic aneurysm; Arachnodactyly; Arnold-Chiari type I malformation; Autism; Autosomal dominant inheritance; Brachycephaly; Brachydactyly; C1-C2 vertebral abnormality; Camptodactyly; Camptodactyly of finger; Cerebral cortical atrophy; Clinodactyly of the 5th finger; Communicating hydrocephalus; Conductive hearing impairment; Constipation; Craniosynostosis; Deeply set eye; Delayed cranial suture closure; Dental malocclusion; Depressed nasal bridge; Depressed nasal ridge; Dislocated radial head; Dolichocephaly; Downslanted palpebral fissures; Dysphagia; EEG abnormality; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Frontal bossing; Gait disturbance; Gastroesophageal reflux; Generalized hypotonia; Genu recurvatum; Global developmental delay; High forehead; High hypermetropia; High, narrow palate; Horizontal eyebrow; Hydrocephalus; Hyperextensible skin; Hypertelorism; Hypoplasia of the maxilla; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint hyperflexibility; Joint laxity; Lateral clavicle hook; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Metaphyseal widening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve prolapse; Muscular hypotonia; Myopia; Narrow mouth; Narrow palate; Obstructive sleep apnea; Osteopenia; Pectus carinatum; Pectus excavatum; Pes planus; Pointed chin; Poor speech; Posteriorly rotated ears; Proptosis; Ptosis; Retrognathia; Scoliosis; Seizures; Self-injurious behavior; Shallow orbits; Short foot; Sporadic; Stereotypy; Strabismus; Supernumerary ribs; Talipes equinovarus; Telecanthus; Thin ribs; Umbilical hernia; Ventriculomegaly; Wide anterior fontanel; Wide nasal bridgeInflammatory Bowel Disease
SLC19A32q36.3100%gene with protein product606152Abnormality of the basal ganglia; Autosomal recessive inheritance; Babinski sign; Coma; Confusion; Craniofacial dystonia; Dysarthria; Dysphagia; Encephalopathy; External ophthalmoplegia; Fever; Gait ataxia; Inability to walk; Irritability; Juvenile onset; Morphological abnormality of the pyramidal tract; Muscular hypotonia of the trunk; Mutism; Nystagmus; Paraparesis; Ptosis; Rigidity; Seizures
SLC25A2211p15.5100%gene with protein product609302Abnormality of visual evoked potentials; Autosomal recessive inheritance; Cerebral atrophy; Death in childhood; Delayed myelination; Dysphagia; Epileptic encephalopathy; Eyelid myoclonias; Focal tonic seizures; Generalized myoclonic seizures; Global developmental delay; Hyperreflexia; Infantile spasms; Lethargy; Muscular hypotonia; Myoclonus; Neonatal hypotonia; Poor suck; Progressive microcephaly; Recurrent respiratory infections; Spasticity
SLC52A28q24.3100%gene with protein product607882GPR172AAbnormality of eye movement; Areflexia; Ataxia; Autosomal recessive inheritance; Bulbar palsy; Clumsiness; Dysarthria; Dysphagia; Facial palsy; Generalized amyotrophy; Generalized hypotonia; Hypokinesia; Hyporeflexia; Limb muscle weakness; Muscular hypotonia; Myoclonus; Neck muscle weakness; Progressive; Progressive hearing impairment; Ptosis; Respiratory insufficiency; Sensorineural hearing impairment; Skeletal muscle atrophy; Split hand; Tongue fasciculations; Variable expressivity
SLC52A320p13100%gene with protein product613350C20orf54Abnormality of eye movement; Ankle clonus; Autosomal recessive inheritance; Bulbar palsy; Clumsiness; Cranial nerve motor loss; Diaphragmatic weakness; Dysarthria; Dysphagia; External ophthalmoplegia; Facial diplegia; Facial palsy; Generalized hyperreflexia; Hand muscle atrophy; Hyporeflexia; Juvenile onset; Knee clonus; Kyphosis; Limb muscle weakness; Muscular hypotonia; Myoclonus; Myopathic facies; Neck muscle weakness; Nocturnal hypoventilation; Peripheral neuropathy; Progressive; Progressive hearing impairment; Progressive inspiratory stridor; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorineural hearing impairment; Skeletal muscle atrophy; Stridor; Tongue atrophy; Tongue fasciculations; Vocal cord paralysis; Weak voice
SLC52A320p13100%gene with protein product613350C20orf54Abnormality of eye movement; Ankle clonus; Autosomal recessive inheritance; Bulbar palsy; Clumsiness; Cranial nerve motor loss; Diaphragmatic weakness; Dysarthria; Dysphagia; External ophthalmoplegia; Facial diplegia; Facial palsy; Generalized hyperreflexia; Hand muscle atrophy; Hyporeflexia; Juvenile onset; Knee clonus; Kyphosis; Limb muscle weakness; Muscular hypotonia; Myoclonus; Myopathic facies; Neck muscle weakness; Nocturnal hypoventilation; Peripheral neuropathy; Progressive; Progressive hearing impairment; Progressive inspiratory stridor; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorineural hearing impairment; Skeletal muscle atrophy; Stridor; Tongue atrophy; Tongue fasciculations; Vocal cord paralysis; Weak voice
SLC52A320p13100%gene with protein product613350C20orf54Abnormality of eye movement; Ankle clonus; Autosomal recessive inheritance; Bulbar palsy; Clumsiness; Cranial nerve motor loss; Diaphragmatic weakness; Dysarthria; Dysphagia; External ophthalmoplegia; Facial diplegia; Facial palsy; Generalized hyperreflexia; Hand muscle atrophy; Hyporeflexia; Juvenile onset; Knee clonus; Kyphosis; Limb muscle weakness; Muscular hypotonia; Myoclonus; Myopathic facies; Neck muscle weakness; Nocturnal hypoventilation; Peripheral neuropathy; Progressive; Progressive hearing impairment; Progressive inspiratory stridor; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Respiratory distress; Respiratory insufficiency; Scoliosis; Sensorineural hearing impairment; Skeletal muscle atrophy; Stridor; Tongue atrophy; Tongue fasciculations; Vocal cord paralysis; Weak voice
SLC5A72q12.3100%gene with protein product608761Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Dysphagia; Dysphonia; Facial palsy; Generalized hypotonia; Hyporeflexia; Kyphosis; Neck muscle weakness; Onset; Ophthalmoparesis; Peripheral neuropathy; Pes cavus; Poor suck; Ptosis; Scoliosis; Slow progression; Stridor; Variable expressivity; Vocal cord paralysis; Vocal cord paresis
SLC6A91p34.1100%gene with protein product601019Anteverted nares; Apnea; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Congenital onset; Depressed nasal bridge; Dysphagia; Elbow flexion contracture; Encephalopathy; Exaggerated startle response; Global developmental delay; Hip contracture; Hip dislocation; Hypertonia; Joint laxity; Low-set ears; Myopathic facies; Retrognathia; Talipes equinovarus; Trigonocephaly; Ventriculomegaly
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SLC9A6Xq26.399.51%gene with protein product300231Abnormality of the foot; Absent speech; Adducted thumb; Aplasia/Hypoplasia of the cerebellum; Aplasia/Hypoplasia of the corpus callosum; Autism; Bowel incontinence; Cachexia; Cerebellar atrophy; Cerebral cortical atrophy; Conspicuously happy disposition; Decreased body weight; Developmental regression; Drooling; Dysphagia; Dystonia; Feeding difficulties in infancy; Flexion contracture; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Generalized seizures; Global developmental delay; Happy demeanor; Hyperkinesis; Inappropriate laughter; Intellectual disability, profound; Intellectual disability, progressive; Intellectual disability, severe; Long face; Long nose; Loss of ability to walk in first decade; Macrotia; Mandibular prognathia; Microcephaly; Mutism; Narrow chest; Narrow face; Neuronal loss in central nervous system; Nystagmus; Open mouth; Ophthalmoplegia; Pectus excavatum; Photosensitive tonic-clonic seizures; Severe global developmental delay; Skeletal muscle atrophy; Sleep disturbance; Slender finger; Stereotypy; Strabismus; Thick eyebrow; Truncal ataxia; Urinary incontinence; Ventriculomegaly; X-linked dominant inheritance
SNCA4q22.1100%gene with protein product163890PARK1, PARK4Autosomal dominant inheritance; Bradykinesia; Delusions; Dementia; Depressivity; Dysarthria; Dysautonomia; Dysphagia; Dystonia; Fluctuations in consciousness; Hallucinations; Hypokinesia; Insidious onset; Lewy bodies; Mental deterioration; Middle age onset; Myoclonus; Orthostatic hypotension; Paranoia; Parkinsonism; Postural instability; Progressive; Rapidly progressive; Resting tremor; Rigidity; Shuffling gait; Sleep disturbance; Urinary urgency; Visual hallucinations; Weight loss
SNCAIP5q23.2100%gene with protein product603779Bradykinesia; Constipation; Dementia; Depressivity; Dysarthria; Dysphagia; Dystonia; Insidious onset; Lewy bodies; Mask-like facies; Neuronal loss in central nervous system; Parkinsonism; Personality changes; Postural instability; Progressive; Resting tremor; Rigidity; Short stepped shuffling gait; Sleep disturbance; Sporadic; Substantia nigra gliosis; Urinary urgency; Weak voice
SPECC1L22q11.23100%gene with protein product614140CYTSAAbnormality of the helix; Abnormality of the kidney; Abnormality of the skeletal system; Abnormality of the ureter; Absent gallbladder; Agenesis of corpus callosum; Anal atresia; Anal stenosis; Aplasia/Hypoplasia of the cerebellar vermis; Aspiration; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Bifid scrotum; Bifid uvula; Brachydactyly; Cavum septum pellucidum; Cerebellar vermis hypoplasia; Cerebral cortical atrophy; Cleft palate; Cleft upper lip; Clinodactyly of the 5th finger; Coarctation of aorta; Conductive hearing impairment; Cranial asymmetry; Cryptorchidism; Depressed nasal bridge; Diastasis recti; Downslanted palpebral fissures; Dysphagia; Epicanthus; Everted lower lip vermilion; Facial cleft; Finger syndactyly; Frontal bossing; Generalized hypotonia; Global developmental delay; Hiatus hernia; High palate; Highly arched eyebrow; Hypertelorism; Hypospadias; Infantile onset; Inguinal hernia; Intellectual disability; Laryngeal cleft; Long philtrum; Low-set ears; Micrognathia; Patent ductus arteriosus; Posteriorly rotated ears; Preauricular pit; Prominent forehead; Prominent nasal bridge; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Round face; Shawl scrotum; Short lingual frenulum; Short nose; Short toe; Smooth philtrum; Sporadic; Strabismus; Telecanthus; Thick eyebrow; Thin upper lip vermilion; Thin vermilion border; Tracheoesophageal fistula; Umbilical hernia; Ventricular septal defect; Ventriculomegaly; Weak cry; Wide nasal bridgeDisorders of Sex Development
SPG1115q21.199.98%gene with protein product610844KIAA1840Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of the periventricular white matter; Adult onset; Agenesis of corpus callosum; Amyotrophic lateral sclerosis; Ankle clonus; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Childhood onset; Cognitive impairment; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal muscle weakness; Distal peripheral sensory neuropathy; Distal sensory impairment; Dysarthria; Dysphagia; EMG abnormality; Fasciculations; Foot dorsiflexor weakness; Gait disturbance; Gaze-evoked nystagmus; Hyperreflexia; Hypoplasia of the corpus callosum; Impaired vibration sensation in the lower limbs; Intellectual disability; Juvenile onset; Knee clonus; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mental deterioration; Motor polyneuropathy; Nystagmus; Obesity; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Progressive; Pseudobulbar behavioral symptoms; Respiratory insufficiency due to muscle weakness; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Specific learning disability; Thenar muscle atrophy; Tip-toe gait; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventriculomegaly; Visual impairment
SPG716q24.3100%gene with protein product602783CMARAbnormal mitochondrial morphology; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Degeneration of the lateral corticospinal tracts; Dysarthria; Dysphagia; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Lower limb hyperreflexia; Lower limb hypertonia; Lower limb muscle weakness; Lower limb spasticity; Memory impairment; Nasal speech; Nystagmus; Optic atrophy; Pes cavus; Ragged-red muscle fibers; Scoliosis; Slowed slurred speech; Spastic gait; Spastic paraplegia; Supranuclear gaze palsy; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
SQSTM15q35.3100%gene with protein product601530PDB3, OSILAbnormal brain FDG positron emission tomography; Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone pain; Brain stem compression; Bulbar palsy; Cerebral cortical atrophy; Collectionism; Cranial nerve paralysis; Depressivity; Disinhibition; Dysarthria; Dyscalculia; Dysdiadochokinesis; Dysgraphia; Dyslexia; Dysmetria; Dysphagia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: myotonic discharges; EMG: positive sharp waves; Emotional blunting; Emotional lability; Facial palsy; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Fractures of the long bones; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait ataxia; Generalized muscle weakness; Heterogeneous; Hip flexor weakness; Hydroxyprolinuria; Hyperorality; Hyperreflexia; Hyporeflexia; Hypothyroidism; Inappropriate behavior; Increased susceptibility to fractures; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Language impairment; Limb ataxia; Limited shoulder movement; Limited wrist extension; Long-tract signs; Loss of speech; Memory impairment; Mental deterioration; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Mutism; Neurodegeneration; Nystagmus; Oculomotor apraxia; Osteolysis; Osteosarcoma; Pain; Paralysis; Paraparesis; Patchy osteosclerosis; Perseveration; Personality changes; Phenotypic variability; Poor speech; Premature loss of teeth; Progressive; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spasticity; Steppage gait; Stereotypy; Tetraparesis; Thickened nuchal skin fold; Tibialis muscle weakness; Tremor; Variable expressivity; Vertebral compression fractures; Vertical supranuclear gaze palsy; Xerostomia
TARDBP1p36.22100%gene with protein product605078Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Babinski sign; Depressivity; Disinhibition; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Generalized muscle weakness; Muscle cramps; Neurodegeneration; Pain; Paralysis; Perseveration; Rapidly progressive; Respiratory failure; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Stereotypy; Xerostomia
TBK112q14.298.91%gene with protein product604834Abnormal lower motor neuron morphology; Adult onset; Amyotrophic lateral sclerosis; Anxiety; Apathy; Autosomal dominant inheritance; Bulbar palsy; Cerebral cortical atrophy; Depressivity; Disinhibition; Dysarthria; Dysphagia; Dyspnea; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hyperreflexia; Hyporeflexia; Language impairment; Muscle cramps; Mutism; Neurodegeneration; Pain; Paralysis; Personality changes; Phenotypic variability; Progressive; Respiratory failure; Skeletal muscle atrophy; Spasticity; Xerostomia
TBP6q27100%gene with protein productXomeDxSlice is not appropriate.600075GTF2D1, SCA17Abnormal pyramidal signs; Aggressive behavior; Apraxia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Broad-based gait; Cerebellar atrophy; Cerebellar Purkinje layer atrophy; Chorea; Confusion; Depressivity; Diffuse cerebral atrophy; Dysarthria; Dysmetria; Dysphagia; Dystonia; Frontal lobe dementia; Frontal release signs; Gait ataxia; Gait disturbance; Gaze-evoked nystagmus; Generalized cerebral atrophy/hypoplasia; Gliosis; Hallucinations; Impaired pursuit initiation and maintenance; Intention tremor; Lack of insight; Limb ataxia; Mental deterioration; Mutism; Myoclonus; Neuronal loss in central nervous system; Paranoia; Parkinsonism; Positive Romberg sign; Progressive; Rigidity; Seizures; Spasticity; Torticollis; Urinary incontinenceDisorders of Sex Development; Ectodermal Dysplasia
TIMM8AXq22.1100%gene with protein product300356DFN1Abnormal electroretinogram; Abnormal posturing; Blindness; Cerebral calcification; Childhood onset; Constriction of peripheral visual field; Cortical visual impairment; Dementia; Dysarthria; Dysphagia; Dystonia; Generalized amyotrophy; Hyperreflexia; Increased susceptibility to fractures; Infantile sensorineural hearing impairment; Mental deterioration; Myopia; Optic atrophy; Photophobia; Postlingual sensorineural hearing impairment; Progressive sensorineural hearing impairment; Reduced visual acuity; Spasticity; Tremor; Visual impairment; X-linked inheritance; X-linked recessive inheritance
TK216q21100%gene with protein product188250Abnormality of the basal ganglia; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Decreased activity of mitochondrial respiratory chain; Delayed gross motor development; Depletion of mitochondrial DNA in muscle tissue; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Generalized amyotrophy; Generalized hypotonia; Gowers sign; Hearing impairment; Increased serum lactate; Infantile onset; Intellectual disability, progressive; Irritability; Lactic acidosis; Limb muscle weakness; Loss of ability to walk in early childhood; Mitochondrial myopathy; Progressive; Progressive external ophthalmoplegia; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Scapular winging; Seizures; Skeletal muscle atrophy; Variable expressivityRhabdomyolysis
TPM29p13.3100%gene with protein product190990AMCD1Abnormality of the ear; Abnormality of the hip bone; Absent phalangeal crease; Adducted thumb; Aplasia/Hypoplasia of the radius; Arthrogryposis multiplex congenita; Autosomal dominant inheritance; Autosomal recessive inheritance; Bilateral single transverse palmar creases; Bulbar palsy; Calcaneovalgus deformity; Camptodactyly; Camptodactyly of finger; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Decreased fetal movement; Difficulty walking; Dilated cardiomyopathy; Distal arthrogryposis; Downslanted palpebral fissures; Dysphagia; Elbow flexion contracture; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Generalized muscle weakness; Gowers sign; Heterogeneous; High palate; Hyporeflexia; Joint stiffness; Kyphoscoliosis; Limb muscle weakness; Long face; Long philtrum; Lumbar hyperlordosis; Mandibular prognathia; Metatarsus adductus; Micrognathia; Motor delay; Muscular hypotonia; Myopathic facies; Myopathy; Narrow face; Narrow mouth; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Overlapping fingers; Pectus excavatum; Prominent nasolabial fold; Protruding ear; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Reduced vital capacity; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Rocker bottom foot; Round ear; Scapular winging; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Talipes; Talipes equinovarus; Tarsal synostosis; Triangular face; Type 1 fibers relatively smaller than type 2 fibers; Type 1 muscle fiber predominance; Ulnar deviation of finger; Ulnar deviation of the hand or of fingers of the hand; Ulnar deviation of the wrist; Variable expressivity; Vertebral segmentation defect; Waddling gait; Weak cry; Webbed neck; Wide nasal bridgeRhabdomyolysis
TPM31q21.3100%gene with protein product191030NEM1Autosomal dominant inheritance; Autosomal recessive inheritance; Bulbar palsy; Centrally nucleated skeletal muscle fibers; Con