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Phenotypes
Difficulty walking

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ARL6IP116p12.3100%gene with protein product607669ARL6IPAbnormality of the Achilles tendon; Abnormality of the knee; Absent Achilles reflex; Autosomal recessive inheritance; Difficulty walking; Hyperactive patellar reflex; Inability to walk; Motor polyneuropathy; Polyneuropathy; Scissor gait; Sensory neuropathy; Spastic paraplegia; Spasticity
ARL6IP116p12.3100%gene with protein product607669ARL6IPAbnormality of the Achilles tendon; Abnormality of the knee; Absent Achilles reflex; Autosomal recessive inheritance; Difficulty walking; Hyperactive patellar reflex; Inability to walk; Motor polyneuropathy; Polyneuropathy; Scissor gait; Sensory neuropathy; Spastic paraplegia; Spasticity
ASAH18p2299.9%gene with protein product613468ASAHAreflexia; Arthralgia; Arthritis; Autosomal dominant inheritance; Autosomal recessive inheritance; Cherry red spot of the macula; Decreased muscle mass; Degeneration of anterior horn cells; Dementia; Difficulty walking; EEG abnormality; EMG abnormality; Facial palsy; Failure to thrive; Frequent falls; Gait disturbance; Generalized myoclonic seizures; Gowers sign; Hepatomegaly; Hoarse cry; Intellectual disability; Irritability; Joint stiffness; Joint swelling; Juvenile onset; Kyphosis; Laryngomalacia; Lipogranulomatosis; Motor delay; Myoclonus; Neurological speech impairment; Nystagmus; Oral-pharyngeal dysphagia; Osteoporosis; Periarticular subcutaneous nodules; Progressive; Progressive distal muscular atrophy; Recurrent respiratory infections; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Short stature; Spinal muscular atrophy; Splenomegaly; Tongue fasciculations; Tremor; Variable expressivity
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
CAPN315q15.199.97%gene with protein product114240LGMD2, LGMD2AAutosomal recessive inheritance; Clumsiness; Difficulty walking; Elevated serum creatine phosphokinase; Eosinophilia; Flexion contracture; Muscular dystrophy; Proximal amyotrophy; Scapular wingingRhabdomyolysis
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
COASY17q21.2100%gene with protein product609855Abnormality of thalamus morphology; Abnormality of the caudate nucleus; Autosomal recessive inheritance; Bradykinesia; Cognitive impairment; Depressivity; Developmental regression; Difficulty walking; Distal amyotrophy; Dysarthria; Eye of the tiger anomaly of globus pallidus; Hyporeflexia; Mental deterioration; Motor axonal neuropathy; Neurodegeneration; Obsessive-compulsive behavior; Oromandibular dystonia; Parkinsonism; Peripheral axonal neuropathy; Progressive; Rigidity; Spastic paraparesis; Spastic tetraplegia; Toe walking
CPT1C19q13.33100%gene with protein product608846Adult onset; Autosomal dominant inheritance; Babinski sign; Difficulty walking; Hyperreflexia; Proximal muscle weakness; Skeletal muscle atrophy; Slow progression; Spastic paraplegia
CYP27B112q14.1100%gene with protein product609506VDD1, PDDRAbdominal wall muscle weakness; Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Deformed rib cage; Delayed epiphyseal ossification; Delayed eruption of teeth; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized aminoaciduria; Generalized hypotonia; Growth delay; Hypocalcemic seizures; Hypophosphatemia; Hypoplasia of dental enamel; Irritability; Metaphyseal irregularity; Motor delay; Protuberant abdomen; Recurrent fractures; Rickets; Secondary hyperparathyroidism; Sparse bone trabeculae; Subperiosteal bone resorption; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
CYP2R111p15.2100%gene with protein product608713Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Deformed rib cage; Delayed epiphyseal ossification; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized hypotonia; Growth delay; Hypophosphatemia; Infantile onset; Metaphyseal irregularity; Muscle weakness; Recurrent fractures; Rickets; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
DDHD114q22.1100%gene with protein product614603SPG28Autosomal recessive inheritance; Babinski sign; Difficulty walking; Distal sensory impairment; Hyperreflexia; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Pes cavus; Scoliosis; Slow progression; Spastic paraplegia
DHTKD110p14100%gene with protein product614984Aminoaciduria; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Delayed speech and language development; Difficulty walking; Generalized hypotonia; Global developmental delay; Intellectual disability, mild; Microcephaly; Phenotypic variability; Skeletal muscle atrophy
DMDXp21.2-p21.199.94%gene with protein product300377MRX85Abnormal urinary color; Adult onset; Arrhythmia; Calf muscle hypertrophy; Calf muscle pseudohypertrophy; Cardiomyopathy; Childhood onset; Cognitive impairment; Congestive heart failure; Delayed speech and language development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Falls; Fatigue; Flexion contracture; Generalized hypotonia; Global developmental delay; Gowers sign; Hyperlordosis; Hyporeflexia; Hypoventilation; Intellectual disability; Intellectual disability, mild; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Myalgia; Myoglobinuria; Progressive muscle weakness; Proximal muscle weakness; Respiratory failure; Respiratory insufficiency; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Waddling gait; X-linked inheritance; X-linked recessive inheritanceObesity; Rhabdomyolysis
DNM19q34.11100%gene with protein product602377DNMAbnormality of brainstem morphology; Absent speech; Aggressive behavior; Atonic seizures; Atypical absence seizures; Autistic behavior; Autosomal dominant inheritance; Developmental regression; Difficulty walking; EEG with focal sharp slow waves; Encephalopathy; Epileptic encephalopathy; Falls; Generalized hypotonia; Generalized tonic seizures; Generalized tonic-clonic seizures; Hyperactivity; Inability to walk; Intellectual disability; Mental deterioration; Myoclonus; Personality disorder; Seizures
EIF2S3Xp22.11100%gene with protein product300161EIF2GAggressive behavior; Agitation; Babinski sign; Broad nasal tip; Cleft lip; Cleft palate; Cryptorchidism; Delayed puberty; Delayed speech and language development; Depressed nasal tip; Difficulty walking; Downturned corners of mouth; Drooling; EEG abnormality; Full cheeks; Gait ataxia; Generalized hypotonia; Global developmental delay; Growth delay; Growth hormone deficiency; Hyperreflexia; Hypertonia; Hypoglycemia; Hypogonadism; Hypoplasia of the corpus callosum; Inability to walk; Intellectual disability; Intellectual disability, severe; Large earlobe; Long face; Long philtrum; Macrotia; Microcephaly; Micropenis; Muscular hypotonia; Myopia; Nystagmus; Obesity; Open mouth; Poor speech; Round face; Seizures; Severe global developmental delay; Short stature; Sloping forehead; Spastic tetraparesis; Strabismus; Talipes equinovarus; Tall chin; Tapered finger; Thick vermilion border; Variable expressivity; Ventriculomegaly; Widely spaced teeth; X-linked recessive inheritanceObesity
ERLIN110q24.31100%gene with protein product611604C10orf69, SPFH1Autosomal recessive inheritance; Clonus; Difficulty walking; Lower limb spasticity; Progressive; Spastic gait; Tip-toe gait
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FBXO385q32100%gene with protein product608533Autosomal dominant inheritance; Difficulty running; Difficulty walking; EMG: chronic denervation signs; Fasciculations; Lower limb amyotrophy; Lower limb muscle weakness; Muscle cramps; Slow progression; Spinal muscular atrophy; Triceps weakness; Variable expressivity; Weakness of the intrinsic hand muscles
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
FKRP19q13.32100%gene with protein product606596Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the cerebral white matter; Abnormality of the voice; Absent septum pellucidum; Achilles tendon contracture; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Calf muscle hypertrophy; Cataract; Cerebellar atrophy; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Death in childhood; Delayed gross motor development; Difficulty climbing stairs; Difficulty walking; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Feeding difficulties in infancy; Frequent falls; Gait disturbance; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Kyphosis; Left ventricular failure; Left ventricular hypertrophy; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle cramps; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myalgia; Myopathy; Myopia; Neonatal hypotonia; Neurological speech impairment; Nocturnal hypoventilation; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pelvic girdle muscle weakness; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal amyotrophy; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Restrictive deficit on pulmonary function testing; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Thigh hypertrophy; Toe walking; Type II lissencephaly; Variable expressivity; Vertebral fusion; Visual impairment; Waddling gaitMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
GAN16q23.299.89%gene with protein product605379Abnormal hand morphology; Abnormal pyramidal signs; Abnormality of the Achilles tendon; Abnormality of the cerebellum; Abnormality of the hand; Areflexia; Areflexia of lower limbs; Autosomal recessive inheritance; CNS hypomyelination; Curly hair; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Diffuse axonal swelling; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Facial palsy; Generalized hypotonia; Hyperreflexia; Hyporeflexia of lower limbs; Intellectual disability; Joint hypermobility; Juvenile onset; Morphological abnormality of the pyramidal tract; Motor axonal neuropathy; Nystagmus; Pes cavus; Pes planus; Phenotypic variability; Pili canaliculi; Proximal muscle weakness; Scoliosis; Sensory axonal neuropathy; Slow progression; Spastic paraplegia; Spasticity; Steppage gait; Talipes equinovarus; Unsteady gait; Woolly hair
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
GOSR217q21.3299.98%gene with protein product604027Absence seizures; Areflexia; Ataxia; Atonic seizures; Autosomal recessive inheritance; Difficulty walking; Dysarthria; Elevated serum creatine phosphokinase; Myoclonus; Progressive; Scoliosis; Tremor
HK110q22.1100%gene with protein product142600Abnormality of the foot; Abnormality of the hand; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal regeneration; Cholecystitis; Cholelithiasis; Congenital onset; Constriction of peripheral visual field; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty walking; Distal muscle weakness; Hyperbilirubinemia; Hyporeflexia; Jaundice; Macular atrophy; Nonspherocytic hemolytic anemia; Normochromic anemia; Normocytic anemia; Nyctalopia; Optic disc pallor; Peripheral hypomyelination; Peripheral neuropathy; Photophobia; Progressive; Reduced visual acuity; Reticulocytosis; SplenomegalyHemolytic Anemia
HSPB17q11.23100%gene with protein product602195Adult onset; Areflexia; Areflexia of lower limbs; Autosomal dominant inheritance; Chronic axonal neuropathy; Decreased motor nerve conduction velocity; Difficulty walking; Distal amyotrophy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Distal sensory impairment; EMG: chronic denervation signs; EMG: neuropathic changes; Fasciculations; Foot dorsiflexor weakness; Heterogeneous; Hyporeflexia; Hyporeflexia of lower limbs; Impaired pain sensation; Impaired temperature sensation; Limb fasciculations; Lower limb muscle weakness; Muscle cramps; Paresis of extensor muscles of the big toe; Peripheral axonal neuropathy; Peripheral neuropathy; Pes cavus; Reduced tendon reflexes; Slow progression; Split hand; Steppage gait; Talipes equinovarus; Ulnar claw; Upper limb amyotrophy
HSPB35q11.2100%gene with protein product604624Areflexia of lower limbs; Autosomal dominant inheritance; Difficulty walking; Distal lower limb muscle weakness; Distal upper limb muscle weakness; EMG: neuropathic changes; Hyporeflexia of lower limbs; Peripheral neuropathy; Skeletal muscle atrophy; Slow progression; Steppage gait
KY3q22.2100%gene with protein product605739Achilles tendon contracture; Autosomal recessive inheritance; Difficulty walking; Elbow flexion contracture; Elevated serum creatine phosphokinase; Facial palsy; Hyperlordosis; Hyporeflexia; Kyphosis; Skeletal muscle atrophy; Slow progression; Spinal rigidity; Talipes equinovarusVACTERL Association
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LRP411p11.2100%gene with protein product6042702-3 finger syndactyly; Abnormal cortical bone morphology; Abnormality of the metacarpal bones; Abnormality of the nose; Absent fingernail; Absent toenail; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Craniofacial hyperostosis; Curved distal phalanges of the hand; Cutaneous finger syndactyly; Diaphyseal thickening; Difficulty walking; Downslanted palpebral fissures; Facial palsy; Feeding difficulties; Finger syndactyly; Fingernail dysplasia; Frontal bossing; Hearing impairment; Hypertelorism; Hypoplasia of the radius; Hypoplasia of the ulna; Hyporeflexia; Increased bone mineral density; Macrocephaly; Mandibular prognathia; Micrognathia; Nail dysplasia; Prominent forehead; Ptosis; Radioulnar synostosis; Renal agenesis; Renal hypoplasia; Sensorineural hearing impairment; Short finger; Short thumb; Syndactyly; Synostosis of carpal bones; Tall stature; Toe syndactyly
MFN21p36.22100%gene with protein product608507Abnormality of color vision; Abnormality of visual evoked potentials; Anosmia; Areflexia; Arthralgia; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration/regeneration; Babinski sign; Central scotoma; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Delayed gross motor development; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Distal sensory impairment of all modalities; Dysmetric saccades; Flexion contracture; Foot dorsiflexor weakness; Gait disturbance; Hammertoe; Hepatomegaly; Hyporeflexia; Incomplete penetrance; Infantile onset; Insulin resistance; Joint stiffness; Kyphosis; Limb muscle weakness; Lumbar hyperlordosis; Multiple lipomas; Onion bulb formation; Optic atrophy; Optic disc pallor; Pain; Paresthesia; Peripheral axonal atrophy; Peripheral axonal neuropathy; Pes cavus; Positive Romberg sign; Proximal muscle weakness; Reduced tendon reflexes; Scoliosis; Slow decrease in visual acuity; Slow progression; Steppage gait; Tinnitus; Variable expressivity; Vocal cord paresis
MICU110q22.1100%gene with protein product605084CBARA1Autosomal recessive inheritance; Difficulty running; Difficulty walking; Elevated serum creatine phosphokinase; Motor delayRhabdomyolysis
MORC222q12.2100%gene with protein product616661ZCWCC1Autosomal dominant inheritance; Difficulty walking; Distal sensory impairment; Fasciculations; Foot dorsiflexor weakness; Generalized hypotonia; Hearing impairment; High pitched voice; Muscle cramps; Myokymia; Pes cavus; Phenotypic variability; Slow progression
NACC119p13.13100%gene with protein product610672BTBD14BAbsent speech; Autosomal dominant inheritance; Broad nasal tip; Cataract; Cerebral atrophy; Delayed myelination; Difficulty walking; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized hypotonia; Global developmental delay; Intellectual disability; Irritability; Microcephaly; Poor head control; Scoliosis; Seizures; Spasticity; Stereotypy
NKX2-114q13.3100%gene with protein product600635NKX2A, BCH, TITF1Abdominal distention; Anxiety; Ataxia; Atrial septal defect; Autosomal dominant inheritance; Chorea; Choreoathetosis; Coarse facial features; Compensated hypothyroidism; Congenital hypothyroidism; Congenital onset; Constipation; Difficulty walking; Dysarthria; Dystonia; Fatigue; Feeding difficulties; Gait disturbance; Generalized hypotonia; Global developmental delay; Hypersomnia; Hypothyroidism; Increased thyroid-stimulating hormone level; Intellectual disability, severe; Juvenile onset; Large fontanelles; Macroglossia; Motor delay; Muscle weakness; Muscular hypotonia; Neonatal respiratory distress; Phenotypic variability; Recurrent respiratory infections; Respiratory distress; Short stature; Thyroid agenesis; Ventricular septal defect
ORAI112q24.3199.36%gene with protein product610277TMEM142AAbnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Anemia; Areflexia of lower limbs; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty walking; Ectodermal dysplasia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Failure to thrive; Fatiguable weakness of proximal limb muscles; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Gowers sign; Heat intolerance; High forehead; Hypocalcemia; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscular hypotonia; Myalgia; Myopathy; Neurological speech impairment; Proximal muscle weakness; Purpura; Recurrent aphthous stomatitis; Recurrent infections; Respiratory insufficiency due to muscle weakness; Short stature; Slow progression; Spinal rigidityAutoimmune Disorders ; Ectodermal Dysplasia
PLEKHG51p36.3199.98%gene with protein product611101Abnormal lower motor neuron morphology; Areflexia; Autosomal recessive inheritance; Childhood onset; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty climbing stairs; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; EMG: neuropathic changes; Hammertoe; Hyperlordosis; Joint contracture of the hand; Mildly elevated creatine phosphokinase; Pes cavus; Proximal muscle weakness; Rapidly progressive; Respiratory insufficiency due to muscle weakness; Scapuloperoneal amyotrophy; Scoliosis; Spinal muscular atrophy; Talipes equinovarus; Waddling gait
PNPLA211p15.5100%gene with protein product609059Adult onset; Autosomal recessive inheritance; Difficulty running; Difficulty walking; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Fasciculations; Generalized hypotonia; Gowers sign; Hepatic steatosis; Hepatomegaly; Increased muscle lipid content; Myalgia; Myopathy; Proximal muscle weakness; Slow progression; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PRX19q13.299.98%gene with protein product605725Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Kyphoscoliosis; Limb muscle weakness; Motor delay; Onion bulb formation; Peripheral demyelination; Pes cavus; Scoliosis; Segmental peripheral demyelination/remyelination; Sensory ataxia; Skeletal muscle atrophy; Slow progression; Split hand; Steppage gait; Ulnar claw; Variable expressivity
REEP12p11.299.98%gene with protein product609139C2orf23Ankle clonus; Areflexia; Autosomal dominant inheritance; Babinski sign; Brisk reflexes; Decreased motor nerve conduction velocity; Difficulty running; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Hyperreflexia in upper limbs; Hyporeflexia; Impaired proprioception; Lower limb hyperreflexia; Lower limb muscle weakness; Pes cavus; Proximal lower limb amyotrophy; Proximal muscle weakness in lower limbs; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Variable expressivity
SBF211p15.499.27%gene with protein product607697CMT4B2Areflexia; Autosomal recessive inheritance; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Glaucoma; Hammertoe; Heterogeneous; Hyporeflexia; Juvenile onset; Kyphoscoliosis; Onion bulb formation; Pes cavus; Segmental peripheral demyelination/remyelination; Sensorineural hearing impairment; Split hand; Steppage gait; Talipes equinovarus; Ulnar clawBone Marrow Failure Syndromes
SETX9q34.13100%gene with protein product608465ALS4, SCAR1Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Amyotrophic lateral sclerosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Axonal degeneration; Babinski sign; Decreased motor nerve conduction velocity; Degeneration of anterior horn cells; Difficulty walking; Diffuse axonal swelling; Distal muscle weakness; Elevated serum creatine phosphokinase; Gaze-evoked nystagmus; Hyperreflexia; Impaired distal vibration sensation; Increased antibody level in blood; Limb ataxia; Pallor of dorsal columns of the spinal cord; Pes cavus; Polyneuropathy; Pontocerebellar atrophy; Progressive; Progressive gait ataxia; Saccadic smooth pursuit; Slow progression; Variable expressivity
SGCD5q33.2-q33.3100%gene with protein product601411Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Difficulty walking; Dilated cardiomyopathy; Elevated serum creatine phosphokinase; Gowers sign; Muscular dystrophy; Proximal amyotrophy; Proximal muscle weakness; Reduced systolic function; Scapular winging; Ventricular hypertrophyRhabdomyolysis
SH3TC25q3299.99%gene with protein product608206Abnormal pupillary light reflex; Autosomal dominant inheritance; Autosomal recessive inheritance; Constrictive median neuropathy; Decreased motor nerve conduction velocity; Decreased number of large peripheral myelinated nerve fibers; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Facial palsy; Hearing impairment; Heterogeneous; Mononeuropathy; Motor delay; Nystagmus; Peripheral axonal degeneration; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Polyneuropathy; Prolonged brainstem auditory evoked potentials; Scoliosis; Segmental peripheral demyelination; Tongue atrophy; Tongue fasciculations; Upper limb muscle weakness
SLC18A310q11.23100%gene with protein product600336Apnea; Autosomal recessive inheritance; Difficulty walking; Exercise intolerance; Facial palsy; Fatigue; Feeding difficulties; Generalized hypotonia; Knee flexion contracture; Nystagmus; Ophthalmoplegia; Ptosis; Respiratory insufficiency
SLC25A1917q25.1100%gene with protein product606521MCPHAAgenesis of corpus callosum; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Congenital onset; Contractures of the joints of the lower limbs; Death in infancy; Difficulty walking; Feeding difficulties; Flexion contracture; Hepatomegaly; Hyporeflexia; Increased CSF lactate; Irritability; Lactic acidosis; Lethargy; Limb hypertonia; Lissencephaly; Metabolic acidosis; Microcephaly; Micrognathia; Muscle weakness; Muscular hypotonia; Muscular hypotonia of the trunk; Optic atrophy; Organic aciduria; Osteoporosis; Paralysis; Partial agenesis of the corpus callosum; Peripheral axonal neuropathy; Polyneuropathy; Progressive microcephaly; Severe global developmental delay; Skeletal muscle atrophy; Sloping forehead; Spina bifida; Talipes equinovarus; Temperature instability; Ventriculomegaly
SLC34A39q34.399.97%gene with protein product609826Abnormality of abdomen morphology; Autosomal recessive inheritance; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Calcium nephrolithiasis; Deformed rib cage; Delayed epiphyseal ossification; Difficulty standing; Difficulty walking; Elevated alkaline phosphatase; Enlargement of the ankles; Enlargement of the costochondral junction; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Generalized hypotonia; Growth delay; Hypercalciuria; Hypophosphatemia; Hypophosphatemic rickets; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Metaphyseal irregularity; Muscle weakness; Osteomalacia; Recurrent fractures; Renal phosphate wasting; Renal tubular dysfunction; Rickets; Short stature; Sparse bone trabeculae; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
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
SNAP2520p12.2100%gene with protein product600322SNAPAreflexia; Ataxia; Autosomal dominant inheritance; Congenital onset; Decreased fetal movement; Difficulty walking; Dysarthria; Easy fatigability; Flexion contracture; Global developmental delay; Muscle weakness; Poor speech; Ptosis; Respiratory insufficiency
SPART13q13.3100%gene with protein product607111SPG20Ankle clonus; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Camptodactyly; Cerebellar atrophy; Childhood onset; Clinodactyly; Difficulty walking; Distal amyotrophy; Drooling; Dysarthria; Dysmetria; Emotional lability; Global developmental delay; Hammertoe; Hyperextensible hand joints; Hyperplasia of midface; Hyperreflexia; Hypertelorism; Intellectual disability, mild; Knee clonus; Kyphoscoliosis; Lower limb muscle weakness; Motor delay; Pes cavus; Short foot; Short stature; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity
STRADA17q23.3100%gene with protein product608626Astrocytosis; Autosomal recessive inheritance; Difficulty walking; Facial hypotonia; Feeding difficulties; Generalized hypotonia; Global developmental delay; Inability to walk; Intellectual disability; Megalencephaly; Open mouth; Seizures; Strabismus; Ventriculomegaly
SURF19q34.299.74%gene with protein product185620Abnormal pattern of respiration; Ataxia; Autosomal recessive inheritance; Axonal loss; CNS demyelination; Difficulty walking; Dysarthria; Dystonia; Easy fatigability; Emotional lability; Failure to thrive; Generalized hypotonia; Gliosis; Global developmental delay; Hepatocellular necrosis; Heterogeneous; Horizontal nystagmus; Hyperreflexia; Hypertrichosis; Increased CSF lactate; Increased serum lactate; Infantile onset; Intellectual disability; Kyphoscoliosis; Lactic acidosis; Mitochondrial inheritance; Nystagmus; Ophthalmoplegia; Optic atrophy; Peripheral demyelination; Peripheral neuropathy; Phenotypic variability; Pigmentary retinopathy; Progressive; Ptosis; Respiratory failure; Seizures; Sensorineural hearing impairment; Skeletal muscle atrophy; Slow progression; Spasticity; Strabismus; Variable expressivity
TCAP17q12100%gene with protein product604488LGMD2GAreflexia of lower limbs; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Elevated serum creatine phosphokinase; Foot dorsiflexor weakness; Increased connective tissue; Increased variability in muscle fiber diameter; Muscular dystrophy; Proximal muscle weakness in lower limbs; Proximal muscle weakness in upper limbs; Proximal upper limb amyotrophy; Rimmed vacuolesRhabdomyolysis
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
TGM620p13100%gene with protein product613900TGM3LAbnormality of the orbital region; Adult onset; Autosomal dominant inheritance; Babinski sign; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysmetria; Gait ataxia; Hyperreflexia; Incoordination; Intention tremor; Limb ataxia; Neck muscle weakness; Progressive cerebellar ataxia; Slow progression; Torticollis
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
TPP111p15.4100%gene with protein product607998CLN2, SCAR7Abnormal nervous system electrophysiology; Ataxia; Autosomal recessive inheritance; Babinski sign; Broad-based gait; Cerebellar atrophy; Cerebral atrophy; Clumsiness; Curvilinear intracellular accumulation of autofluorescent lipopigment storage material; Delayed speech and language development; Developmental regression; Difficulty walking; Diplopia; Dysarthria; Dysmetria; Dysmetric saccades; Horizontal nystagmus; Hyperreflexia; Impaired vibratory sensation; Increased extraneuronal autofluorescent lipopigment; Increased neuronal autofluorescent lipopigment; Limb ataxia; Myoclonus; Oculomotor apraxia; Progressive cerebellar ataxia; Progressive gait ataxia; Progressive visual loss; Retinal degeneration; Saccadic smooth pursuit; Scanning speech; Seizures; Undetectable electroretinogram
TRAPPC114q35.1100%gene with protein product614138C4orf41Achalasia; Adrenal insufficiency; Ataxia; Athetosis; Autosomal recessive inheritance; Cataract; Chorea; Difficulty walking; Dystonia; Elevated serum creatine phosphokinase; Generalized hyperpigmentation; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dysplasia; Hyperlordosis; Inability to walk; Intellectual disability; Limb-girdle muscular dystrophy; Microcephaly; Muscle cramps; Myalgia; Myopia; Palmoplantar keratoderma; Phenotypic variability; Poor speech; Scoliosis; Seizures; Short stature; Strabismus; Tremor; Visual impairment; Waddling gait
TTBK215q15.2100%gene with protein product611695SCA11Adult onset; Autosomal dominant inheritance; Cerebellar atrophy; Difficulty walking; Dysarthria; Dysphagia; Gait imbalance; Horizontal nystagmus; Hyperreflexia; Jerky ocular pursuit movements; Nystagmus; Progressive cerebellar ataxia; Vertical nystagmus
VDR12q13.11100%gene with protein product601769Abdominal wall muscle weakness; Abnormal adipose tissue morphology; Abnormal form of the vertebral bodies; Abnormality of the hip bone; Abnormality of the metaphysis; Abnormality of the skin; Abnormality of the thorax; Alopecia; Alopecia universalis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bone cyst; Bone pain; Bowing of the legs; Bulging epiphyses; Bulging of the costochondral junction; Carious teeth; Deformed rib cage; Delayed epiphyseal ossification; Delayed eruption of teeth; Difficulty standing; Difficulty walking; Dolichocephaly; Elevated alkaline phosphatase; Elevated circulating parathyroid hormone level; Enlargement of the ankles; Enlargement of the wrists; Failure to thrive; Femoral bowing; Fibular bowing; Flat occiput; Frontal bossing; Gait disturbance; Generalized hypotonia; Genu varum; Growth delay; Hyperparathyroidism; Hypocalcemia; Hypocalcemic seizures; Hypophosphatemia; Hypoplasia of dental enamel; Increased serum 1,25-dihydroxyvitamin D3; Infantile onset; Irritability; Joint dislocation; Metaphyseal irregularity; Motor delay; Nephrolithiasis; Osteolysis; Osteomalacia; Osteoporosis; Premature loss of primary teeth; Protuberant abdomen; Recurrent fractures; Rickets; Rough bone trabeculation; Secondary hyperparathyroidism; Short stature; Sparse bone trabeculae; Subperiosteal bone resorption; Thin bony cortex; Tibial bowing; Widely patent fontanelles and sutures
WISP36q21100%gene with protein product603400CCN6Abnormality of the foot; Abnormality of the knee; Arthropathy; Autosomal recessive inheritance; Camptodactyly of finger; Coxa vara; Decreased cervical spine mobility; Difficulty walking; Enlarged epiphyses; Enlarged interphalangeal joints; Enlarged metacarpophalangeal joints; Enlargement of the proximal femoral epiphysis; Flattened epiphysis; Gait disturbance; Genu varum; Joint stiffness; Joint swelling; Kyphoscoliosis; Kyphosis; Metaphyseal widening; Methylmalonic acidemia; Muscle weakness; Osteoarthritis; Osteoporosis; Platyspondyly; Sclerotic vertebral endplates; Scoliosis; Short stature; Waddling gait


The gene coverage data provided by GeneDx represent an estimate based on previous results, but the specific sequencing coverage data for the genes selected may vary from individual to individual, and cannot be predicted exactly. Changes to an approved gene list can only be made by contacting GeneDx directly at 888-729-1206 and asking to speak with a member of our Whole Exome Sequencing Laboratory.


  SUGGESTED CUSTOM SLICES  

Customize below OR enter Suggested Slice ID on printed requisition form
(e.g. 706 XomeDxSlice - Slice ID: CS-Albinism).

Suggested Slice IDSuggested Gene List Name
CS-AlbinismAlbinism
CS-AAAplastic Anemia
CS-AutoImmuneAutoimmune Disorders
CS-BBSBardet-Biedl Syndrome
CS-BMFBone Marrow Failure Syndromes
CS-CVIDCommon Variable Immune Deficiency
CS-CKUTCongenital Kidney and Urinary Tract (CKUT) Anomalies
CS-DSDDisorders of Sex Development
CS-EDEctodermal Dysplasia
CS-FAFanconi Anemia
CS-AnemiaHemolytic Anemia
CS-HeterotaxyHeterotaxy
CS-IBDInflammatory Bowel Disease
CS-MaleInfMale Infertility
CS-WWSMuscular dystropy-dystroglycanopathy (Walker-Warburg)
CS-NephroticNephrotic Syndrome
CS-ObesityObesity
CS-PPKCIPalmoplantar keratoderma plus congenital ichthyosis
CS-Primary ImmunodefPrimary Immunodeficiency
CS-RhabdoRhabdomyolysis
CS-SRTDShort-Rib Thoracic Dysplasia
CS-VACTERLVACTERL Association
CS-WSWaardenburg Syndrome