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Phenotypes
Neonatal hypotonia

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
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
ALG1113q14.3100%gene with protein product613666Absent speech; Autosomal recessive inheritance; Feeding difficulties; Global developmental delay; Infantile onset; Neonatal hypotonia; Opisthotonus; Seizures; Strabismus; Temperature instability; Type I transferrin isoform profile; Vomiting
AP4B11p13.2100%gene with protein product607245SPG47Abnormality of the periventricular white matter; Acetabular dysplasia; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Coarse facial features; Congenital onset; Delayed speech and language development; Dysarthria; Dystonia; Flexion contracture; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, severe; Microcephaly; Narrow forehead; Neonatal hypotonia; Seizures; Short philtrum; Slow progression; Spastic paraplegia; Ventriculomegaly; Waddling gait; Wide mouth
AP4E115q21.2100%gene with protein product607244Abnormality of the voice; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Congenital onset; Decreased muscle mass; Downslanted palpebral fissures; Drooling; Facial hypotonia; Flexion contracture; Global developmental delay; Hyperreflexia; Intellectual disability, severe; Long nose; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Nystagmus; Pointed chin; Prominent antihelix; Seizures; Short philtrum; Short stature; Spastic paraplegia; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal bridge
AP4M17q22.199.99%gene with protein product602296Adducted thumb; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral palsy; Coarse facial features; Congenital onset; Drooling; Gliosis; Global developmental delay; High palate; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, progressive; Intellectual disability, severe; Mandibular prognathia; Microcephaly; Narrow forehead; Neonatal hypotonia; Pseudobulbar signs; Seizures; Short philtrum; Spastic paraplegia; Spastic tetraplegia; Strabismus; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal ridge
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
BIN12q14.3100%gene with protein product601248AMPHLAreflexia; Autosomal recessive inheritance; Axial muscle weakness; Centrally nucleated skeletal muscle fibers; Distal muscle weakness; Dysarthria; Dysphonia; EMG: myopathic abnormalities; Facial palsy; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Gowers sign; Hyperlordosis; Kyphosis; Motor delay; Neonatal hypotonia; Onset; Ophthalmoplegia; Ptosis; Scoliosis; Waddling gait
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
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CAMTA11p36.31-p36.100%gene with protein product611501Abnormal cortical gyration; Abnormal social behavior; Aggressive behavior; Anteverted nares; Autistic behavior; Autosomal dominant inheritance; Bulbous nose; Cerebellar hypoplasia; Cerebral cortical atrophy; Constipation; Deeply set eye; Delayed speech and language development; Dysarthria; Dysmetria; Global developmental delay; Intellectual disability, mild; Long face; Long philtrum; Memory impairment; Neonatal hypotonia; Nonprogressive cerebellar ataxia; Pointed chin; Segmental myoclonic seizures; Strabismus; Thick lower lip vermilion; Unsteady gait; Wide nose
CCDC1743p25.197.88%gene with protein product616735C3orf19Autosomal recessive inheritance; Cryptorchidism; Decreased fetal movement; Delayed speech and language development; Dilation of lateral ventricles; Global developmental delay; Hypoplasia of the corpus callosum; Long face; Myopathic facies; Myopathy; Neonatal hypotonia; Open mouth; Respiratory insufficiency due to muscle weakness; Severe muscular hypotonia; Strabismus; Ventricular septal defect
CHKB22q13.33100%gene with protein product612395CHKLAutosomal recessive inheritance; Congenital muscular dystrophy; Congenital onset; Delayed speech and language development; Elevated serum creatine phosphokinase; Facial palsy; Gowers sign; Ichthyosis; Intellectual disability; Microcephaly; Mitochondrial inheritance; Motor delay; Myopathy; Neonatal hypotonia; Poor speech; Seizures; Slow progression; Waddling gait
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
CHRNB117p13.1100%gene with protein product100710CHRNBAutosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Easy fatigability; Facial palsy; Feeding difficulties; High palate; Long face; Muscle weakness; Muscular hypotonia; Narrow face; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Respiratory insufficiency; Skeletal muscle atrophy
CHRNB117p13.1100%gene with protein product100710CHRNBAutosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Easy fatigability; Facial palsy; Feeding difficulties; High palate; Long face; Muscle weakness; Muscular hypotonia; Narrow face; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Respiratory insufficiency; Skeletal muscle atrophy
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
CLPB11q13.4100%gene with protein product616254Abnormal pyramidal signs; Abnormality of extrapyramidal motor function; Autosomal recessive inheritance; Cataract; Cerebellar atrophy; Cerebral atrophy; Congenital onset; Feeding difficulties; Global developmental delay; Growth delay; Intellectual disability; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Neutropenia; Phenotypic variability; Progressive; Spasticity
CNTN112q1299.99%gene with protein product600016Akinesia; Arachnodactyly; Areflexia; Autosomal recessive inheritance; Camptodactyly; Death in infancy; Fetal akinesia sequence; High, narrow palate; Hypertelorism; Joint contracture of the hand; Neonatal hypotonia; Oval face; Overlapping fingers; Polyhydramnios; Poor suck; Respiratory insufficiency due to muscle weakness; Scaphocephaly; Small for gestational age
COL6A121q22.3100%gene with protein product120220Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A121q22.3100%gene with protein product120220Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A221q22.3100%gene with protein product120240Abnormality of the cardiovascular system; Abnormality of the palate; Achilles tendon contracture; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Decreased pulmonary function; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased connective tissue; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Lumbar hyperlordosis; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Round face; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Thoracolumbar scoliosis; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A221q22.3100%gene with protein product120240Abnormality of the cardiovascular system; Abnormality of the palate; Achilles tendon contracture; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Decreased pulmonary function; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased connective tissue; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Juvenile onset; Knee flexion contracture; Kyphosis; Limb-girdle muscle weakness; Long toe; Lumbar hyperlordosis; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Pes valgus; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Round face; Scoliosis; Short neck; Short stature; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Thoracolumbar scoliosis; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A32q37.3100%gene with protein product120250Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Laryngeal dystonia; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Oromandibular dystonia; Pes valgus; Postural tremor; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COL6A32q37.3100%gene with protein product120250Abnormality of the cardiovascular system; Abnormality of the palate; Adducted thumb; Ankle contracture; Autosomal dominant inheritance; Autosomal recessive inheritance; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Congenital muscular torticollis; Decreased fetal movement; Diaphragmatic weakness; Distal muscle weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Follicular hyperkeratosis; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Hyperhidrosis; Increased endomysial connective tissue; Increased laxity of ankles; Increased laxity of fingers; Increased variability in muscle fiber diameter; Infantile onset; Joint laxity; Joint stiffness; Knee flexion contracture; Kyphosis; Laryngeal dystonia; Limb-girdle muscle weakness; Long toe; Micrognathia; Mildly elevated creatine phosphokinase; Motor delay; Muscle fiber necrosis; Myopathy; Neonatal hypotonia; Nocturnal hypoventilation; Oromandibular dystonia; Pes valgus; Postural tremor; Progressive; Protruding ear; Proximal muscle weakness; Recurrent lower respiratory tract infections; Respiratory failure; Respiratory insufficiency due to muscle weakness; Round face; Scoliosis; Short neck; Skeletal muscle atrophy; Slender build; Slender finger; Slow progression; Spinal rigidity; Talipes equinovarus; Torticollis; Type 1 muscle fiber predominance; Variable expressivity
COQ49q34.11100%gene with protein product612898Autosomal recessive inheritance; Dysphagia; Increased serum lactate; Neonatal hypotonia; Respiratory insufficiency
CPT21p32.3100%gene with protein product600650CPT1Abnormality of nervous system morphology; Abnormality of the foot; Agenesis of corpus callosum; Antenatal intracerebral hemorrhage; Apnea; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Basal ganglia cysts; Bulbous nose; Cardiomegaly; Cardiomyopathy; Cataract; Coma; Decreased plasma free carnitine; Decreased plasma total carnitine; Dilated cardiomyopathy; Elbow flexion contracture; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Elevated serum long-chain fatty acids; Enlarged kidney; Fatigue; Feeding difficulties in infancy; Hepatic calcification; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperammonemia; Hypoketotic hypoglycemia; Hypoplastic toenails; Increased muscle lipid content; Increased total bilirubin; Infantile onset; Intracerebral periventricular calcifications; Knee flexion contracture; Lethargy; Long toe; Long-chain dicarboxylic aciduria; Low-set ears; Macrovesicular hepatic steatosis; Microcephaly; Multicystic kidney dysplasia; Muscle cramps; Muscle stiffness; Muscle weakness; Muscular hypotonia; Myalgia; Myoglobinuria; Myopathy; Narrow palate; Nausea and vomiting; Neonatal hypotonia; Nonketotic hypoglycemia; Overfolded helix; Polycystic kidney dysplasia; Polymicrogyria; Posteriorly rotated ears; Prominent forehead; Renal insufficiency; Respiratory arrest; Respiratory distress; Respiratory failure; Respiratory insufficiency; Rhabdomyolysis; Seizures; Sloping forehead; Tapered finger; Tapered toe; Ureteral duplication; Ventriculomegaly; Vomiting; Wide intermamillary distanceRhabdomyolysis
DLAT11q23.1100%gene with protein product608770DLTAAtaxia; Autosomal recessive inheritance; Choreoathetosis; Decreased activity of the pyruvate dehydrogenase complex; Delayed gross motor development; Drooling; Global developmental delay; Hyperreflexia; Infantile onset; Intellectual disability, mild; Jerky head movements; Lactic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Oculomotor apraxia; Paroxysmal dystonia; Poor speech; Ptosis; Very rare
DST6p12.1100%gene with protein product113810BPAG1Alacrima; Apnea; Areflexia; Atrophic scars; Autosomal recessive inheritance; Blotching pigmentation of the skin; Bradycardia; Corneal scarring; Feeding difficulties; Fever; Flexion contracture; Growth delay; Hand clenching; Hyperhidrosis; Limited hip extension; Neonatal hypotonia; Open mouth; Respiratory insufficiency; Sensory neuropathy; Tachycardia; Talipes equinovarusCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
EARS216p12.2100%gene with protein product612799Absent speech; Autosomal recessive inheritance; Bradykinesia; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Developmental regression; Dysplastic corpus callosum; Dystonia; Failure to thrive; Global developmental delay; Hypoplasia of the corpus callosum; Increased serum lactate; Infantile onset; Lactic acidosis; Leukoencephalopathy; Neonatal hypotonia; Ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Seizures; Spastic tetraparesis; Visual impairment
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EEF1A220q13.33100%gene with protein product602959STNL, STNAggressive behavior; Autosomal dominant inheritance; Deeply set eye; Depressed nasal bridge; Downslanted palpebral fissures; Downturned corners of mouth; Epicanthus; Epileptic encephalopathy; Everted lower lip vermilion; Global developmental delay; Hypsarrhythmia; Infantile onset; Intellectual disability; Intellectual disability, severe; Low-set ears; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Postnatal microcephaly; Seizures; Tented upper lip vermilion; Unsteady gait
EGR210q21.3100%gene with protein product129010KROX20Abnormality of the cranial nerves; Areflexia; Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital onset; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Foot dorsiflexor weakness; Generalized hypotonia; Hammertoe; Heterogeneous; Hypertrophic nerve changes; Hyporeflexia; Increased CSF protein; Infantile onset; Juvenile onset; Kyphoscoliosis; Motor delay; Neonatal hypotonia; Onion bulb formation; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Segmental peripheral demyelination/remyelination; Sensory ataxia; Split hand; Steppage gait; Ulnar claw; Upper limb muscle weakness; Variable expressivity
ERCC6L29q22.3299.95%gene with protein product615667C9orf102Anemia; Autosomal recessive inheritance; Bone marrow hypocellularity; Leukopenia; Microcephaly; Neonatal hypotonia; ThrombocytopeniaAplastic Anemia ; Bone Marrow Failure Syndromes
FGFR18p11.23100%gene with protein product136350FLT2, KAL22-3 toe syndactyly; Abnormal anterior chamber morphology; Abnormal form of the vertebral bodies; Abnormal morphology of the nasolacrimal system; Abnormality of body height; Abnormality of cardiovascular system morphology; Abnormality of the clavicle; Abnormality of the eyelashes; Abnormality of the nasopharynx; Abnormality of the voice; Absence of pubertal development; Absence of secondary sex characteristics; Absent septum pellucidum; Agenesis of corpus callosum; Alopecia; Anosmia; Anterior hypopituitarism; Anterior pituitary hypoplasia; Anteverted nares; Anxiety; Aphasia; Aplasia/Hypoplasia of the corpus callosum; Aplasia/Hypoplasia of the radius; Aplasia/Hypoplasia of the thumb; Arachnoid cyst; Arnold-Chiari malformation; Atrial septal defect; Autosomal dominant inheritance; Bicoronal synostosis; Bimanual synkinesia; Bone cyst; Bowing of the long bones; Brachycephaly; Brachyturricephaly; Breast hypoplasia; Broad foot; Broad hallux; Broad hallux phalanx; Broad metacarpals; Broad metatarsal; Broad palm; Broad phalanx; Broad thumb; Bronchomalacia; Calcaneonavicular fusion; Capillary hemangiomas; Cartilaginous trachea; Cerebellar hypoplasia; Cerebral calcification; Cerebral cortical atrophy; Choanal atresia; Choanal stenosis; Chordee; Cleft palate; Cleft upper lip; Cloverleaf skull; Corneal opacity; Coronal craniosynostosis; Cortical dysplasia; Craniofacial hyperostosis; Craniosynostosis; Cryptorchidism; Dandy-Walker malformation; Decreased fertility; Decreased testicular size; Decreased testosterone in males; Delayed puberty; Delayed skeletal maturation; Delayed speech and language development; Dental crowding; Depressed nasal bridge; Depressivity; Diabetes insipidus; Downslanted palpebral fissures; Dysphasia; Echolalia; Ectrodactyly; Elbow ankylosis; Encephalocele; Epibulbar dermoid; Epicanthus; Erectile abnormalities; Eunuchoid habitus; Eyelid coloboma; Failure to thrive; Failure to thrive in infancy; Female hypogonadism; Finger syndactyly; Frontal bossing; Global developmental delay; Gonadotropin deficiency; Gynecomastia; Hallux varus; Hemiplegia/hemiparesis; Heterogeneous; High forehead; High palate; Humeroradial synostosis; Hydrocephalus; Hydronephrosis; Hypernatremia; Hypertelorism; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hypoplasia of the corpus callosum; Hypoplasia of the frontal bone; Hypoplasia of the iris; Hypoplasia of the maxilla; Hypoplasia of the ovary; Hypoplasia of the uterus; Hypoplastic scapulae; Hypoplastic toenails; Hyposmia; Hypospadias; Hypotelorism; Hypothalamic gonadotropin-releasing hormone deficiency; Impotence; Incomplete penetrance; Increased female libido; Increased susceptibility to fractures; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Iris coloboma; Limb undergrowth; Linear hyperpigmentation; Lipodystrophy; Lipoma; Lipomas of the central neryous system; Lobar holoprosencephaly; Long penis; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hemivertebrae; Macrocephaly; Malar flattening; Male hypogonadism; Mandibular prognathia; Meckel diverticulum; Microcephaly; Microdontia; Micrognathia; Micropenis; Microphthalmia; Midface retrusion; Multiple lipomas; Multiple unerupted teeth; Muscle stiffness; Mutism; Nasal obstruction; Neonatal hypotonia; Neoplasm of the skeletal system; Nevus flammeus; Non-midline cleft lip; Non-obstructive azoospermia; Nystagmus; Oligodontia; Omphalocele; Osteolysis; Osteopenia; Osteoporosis; Pelvic kidney; Peripheral pulmonary artery stenosis; Platyspondyly; Posteriorly rotated ears; Preauricular skin tag; Primary amenorrhea; Prominent supraorbital ridges; Proptosis; Protruding ear; Pseudoarthrosis; Ptosis; Pulmonary arterial hypertension; Reduced bone mineral density; Reduced number of teeth; Respiratory distress; Respiratory insufficiency; Retinopathy; Rhizomelia; Rigidity; Sclerocornea; Secondary amenorrhea; Seizures; Sensorineural hearing impairment; Septo-optic dysplasia; Severe short stature; Shallow orbits; Short foot; Short hallux; Short metacarpal; Short metatarsal; Short middle phalanx of toe; Short neck; Short nose; Short palm; Short phalanx of finger; Short stature; Shortening of all middle phalanges of the fingers; Somatic mosaicism; Sparse body hair; Spasticity; Split hand; Sporadic; Strabismus; Subcortical cerebral atrophy; Subcutaneous lipoma; Subcutaneous nodule; Subvalvular aortic stenosis; Syndactyly; Synophrys; Telecanthus; Toe syndactyly; Tricuspid valve prolapse; Trigonocephaly; Unerupted tooth; Ventricular septal defect; Ventriculomegaly; Visceral angiomatosis; Visual impairment; Wide intermamillary distance; Wide nasal bridge; Wide nose; XanthomatosisDisorders of Sex Development
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
FLNAXq2899.99%gene with protein product300017FLN1, FLN, OPD2, OPD1Abdominal distention; Abnormal bleeding; Abnormal cardiac septum morphology; Abnormal cortical bone morphology; Abnormal facial shape; Abnormal foot bone ossification; Abnormal form of the vertebral bodies; Abnormal hand bone ossification; Abnormal heart valve morphology; Abnormal oral frenulum morphology; Abnormal vertebral segmentation and fusion; Abnormality of dental morphology; Abnormality of metabolism/homeostasis; Abnormality of neuronal migration; Abnormality of skin pigmentation; Abnormality of the coagulation cascade; Abnormality of the fifth metatarsal bone; Abnormality of the metacarpal bones; Abnormality of the metaphysis; Abnormality of the pinna; Abnormality of the pubic bone; Abnormality of the ribs; Absent frontal sinuses; Absent/hypoplastic paranasal sinuses; Accelerated skeletal maturation; Accessory carpal bones; Anisospondyly; Ankle contracture; Anodontia; Antegonial notching of mandible; Anterior concavity of thoracic vertebrae; Anteriorly placed odontoid process; Aortic regurgitation; Arachnodactyly; Bicuspid aortic valve; Bipartite calcaneus; Bowing of the long bones; Brachydactyly; Broad distal phalanx of the thumb; Broad face; Broad forehead; Broad hallux; Broad phalanges of the hand; Broad thumb; Bulbous tips of toes; Camptodactyly of finger; Camptodactyly of toe; Capitate-hamate fusion; Cerebellar hypoplasia; Cleft palate; Coarse facial features; Coarse hair; Coat hanger sign of ribs; Cognitive impairment; Conductive hearing impairment; Cone-shaped epiphyses of the phalanges of the hand; Congenital hip dislocation; Congestive heart failure; Constipation; Cor pulmonale; Coxa valga; Craniofacial hyperostosis; Cryptorchidism; Delayed closure of the anterior fontanelle; Delayed cranial suture closure; Delayed eruption of teeth; Delayed speech and language development; Dental malocclusion; Depressed nasal bridge; Dislocated radial head; Downslanted palpebral fissures; Elbow dislocation; Elbow flexion contracture; Facial asymmetry; Failure to thrive; Feeding difficulties in infancy; Femoral bowing; Fibroma; Fibular aplasia; Flared iliac wings; Flared metaphysis; Flat face; Focal seizures; Frontal bossing; Frontal hirsutism; Full cheeks; Fused cervical vertebrae; Gait disturbance; Gastroesophageal reflux; Genu valgum; Global developmental delay; Glossoptosis; Hearing impairment; Hernia; Heterotopia; High palate; Hip dislocation; Hirsutism; Hoarse voice; Hydrocephalus; Hydronephrosis; Hydroureter; Hypertelorism; Hypoplasia of the musculature; Hypoplastic frontal sinuses; Hypoplastic ilia; Hypoplastic scapulae; Hypospadias; Hypotrichosis; Increased bone mineral density; Increased density of long bone diaphyses; Increased mean platelet volume; Increased size of the mandible; Infantile onset; Intellectual disability; Intellectual disability, mild; Intestinal hypoplasia; Intestinal malrotation; Intestinal pseudo-obstruction; Iris coloboma; Irregular metacarpals; Joint hyperflexibility; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Large fontanelles; Large foramen magnum; Large forehead; Lateral femoral bowing; Limitation of joint mobility; Limited elbow extension; Limited knee flexion; Lipoatrophy; Localized skin lesion; Long fingers; Long foot; Long metacarpals; Long neck; Long phalanx of finger; Low-set ears; Macrotia; Malar flattening; Micrognathia; Midface retrusion; Misalignment of teeth; Mitral regurgitation; Mitral valve prolapse; Motor delay; Multiple impacted teeth; Multiple joint contractures; Nail dysplasia; Nail dystrophy; Narrow chest; Narrow mouth; Neonatal hypotonia; Nonossified fifth metatarsal; Obtuse angle of mandible; Oligodontia; Omphalocele; Osteolytic defects of the phalanges of the hand; Overlapping fingers; Partial fusion of carpals; Partial fusion of tarsals; Patent ductus arteriosus; Pectus excavatum; Periventricular gray matter heterotopia; Persistence of primary teeth; Pes planus; Pierre-Robin sequence; Platyspondyly; Pointed chin; Postaxial hand polydactyly; Posterior vertebral hypoplasia; Posteriorly rotated ears; Postnatal growth retardation; Prominent forehead; Prominent occiput; Prominent supraorbital ridges; Proptosis; Proximal placement of thumb; Ptosis; Pulmonary arterial hypertension; Pulmonary hypoplasia; Pyloric stenosis; Radial bowing; Radial deviation of the 2nd finger; Recurrent otitis media; Recurrent respiratory infections; Reduced number of teeth; Respiratory failure; Rocker bottom foot; Rudimentary fibula; Sandal gap; Scapular winging; Sclerosis of skull base; Scoliosis; Seizures; Selective tooth agenesis; Sensorineural hearing impairment; Short 3rd metacarpal; Short 4th metacarpal; Short 5th metacarpal; Short chin; Short chordae tendineae of the mitral valve; Short chordae tendineae of the tricuspid valve; Short clavicles; Short distal phalanx of finger; Short distal phalanx of hallux; Short distal phalanx of the thumb; Short hallux; Short humerus; Short metacarpal; Short metatarsal; Short nose; Short palm; Short ribs; Short stature; Short thorax; Short thumb; Short toe; Skeletal dysplasia; Skeletal muscle atrophy; Small face; Smooth philtrum; Spondylolysis; Stillbirth; Strabismus; Stridor; Stroke; Synostosis of carpal bones; Talipes equinovarus; Thick skull base; Thickened calvaria; Thin skin; Thrombocytopenia; Tibial bowing; Toe clinodactyly; Toe syndactyly; Tricuspid regurgitation; Tricuspid valve prolapse; Ulnar bowing; Ulnar deviation of finger; Underdeveloped superior crus of antihelix; Undulate clavicles; Ureteral obstruction; Ureteral stenosis; Vertical clivus; Vesicoureteral reflux; Vomiting; Wide anterior fontanel; Wide nasal bridge; Wormian bones; Wrist flexion contracture; X-linked dominant inheritance; X-linked inheritance; X-linked recessive inheritance
FOXG114q1299.71%gene with protein product164874FKHL2, FOXG1B, FKHL4, FKH2, FKHL1, FOXG1C, FKHL3, FOXG1AAbnormality of movement; Abnormality of the antihelix; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Agenesis of corpus callosum; Aplasia/Hypoplasia of the cerebellum; Apraxia; Athetosis; Autosomal dominant inheritance; Blepharophimosis; Bruxism; Bulbous nose; Camptodactyly of finger; Cerebral cortical atrophy; Chorea; Clinodactyly of the 5th finger; Constipation; Cortical gyral simplification; Delayed myelination; Depressed nasal bridge; Developmental regression; Downslanted palpebral fissures; Drooling; Dyskinesia; Dystonia; EEG abnormality; Epicanthus; Everted lower lip vermilion; Excessive salivation; Feeding difficulties; Fine hair; Gastroesophageal reflux; Growth delay; Hearing impairment; Hypoplasia of the corpus callosum; Intellectual disability; Intellectual disability, severe; Kyphosis; Long philtrum; Macroglossia; Mandibular prognathia; Microcephaly; Motor delay; Muscular hypotonia; Neonatal hypotonia; Nephrolithiasis; Pachygyria; Palpebral edema; Pes planus; Poor eye contact; Progressive microcephaly; Prominent metopic ridge; Protruding ear; Scoliosis; Seizures; Short nose; Smooth philtrum; Spasticity; Sporadic; Stereotypy; Talipes equinovarus; Tented upper lip vermilion; Thick vermilion border; Tongue thrusting; Underdeveloped nasal alae; Ventriculomegaly; Wide mouth; Wide nose
GATAD2B1q21.3100%gene with protein product614998Autosomal dominant inheritance; Blepharophimosis; Broad forehead; Deeply set eye; Hypermetropia; Hypertelorism; Inappropriate laughter; Infantile onset; Long fingers; Long toe; Neonatal hypotonia; Poor speech; Thin upper lip vermilion; Wide mouth; Wide nasal bridge
GLYCTK3p21.2100%gene with protein product610516Aminoaciduria; Autosomal recessive inheritance; Cerebral cortical atrophy; Delayed myelination; Encephalopathy; Failure to thrive; Global developmental delay; Growth delay; Hyperreflexia; Hypsarrhythmia; Intellectual disability; Metabolic acidosis; Microcephaly; Muscular hypotonia of the trunk; Myoclonus; Neonatal hypotonia; Nonketotic hyperglycinemia; Opisthotonus; Phenotypic variability; Seizures; Spastic tetraplegia
GNPTAB12q23.299.95%gene with protein product607840GNPTAAbnormality of nervous system morphology; Abnormality of the rib cage; Abnormality of the thorax; Anteverted nares; Aortic regurgitation; Atlantoaxial dislocation; Autosomal recessive inheritance; Beaking of vertebral bodies T12-L3; Broad ribs; Bullet-shaped phalanges of the hand; Cardiomegaly; Carpal bone hypoplasia; Cavernous hemangioma; Coarse facial features; Congestive heart failure; Constrictive median neuropathy; Corneal erosion; Craniosynostosis; Death in childhood; Deficiency of N-acetylglucosamine-1-phosphotransferase; Depressed nasal bridge; Diastasis recti; Dysostosis multiplex; Epicanthus; Failure to thrive; Flared iliac wings; Flat acetabular roof; Generalized hirsutism; Heart murmur; Hepatomegaly; Hernia; High forehead; Hip dislocation; Hoarse voice; Hyperopic astigmatism; Hypertrophic cardiomyopathy; Hypoplasia of the odontoid process; Hypoplastic scapulae; Increased serum beta-hexosaminidase; Increased serum iduronate sulfatase activity; Inguinal hernia; Intellectual disability; Irregular carpal bones; J-shaped sella turcica; Lack of skin elasticity; Large sella turcica; Long philtrum; Lower thoracic interpediculate narrowness; Macroglossia; Mandibular prognathia; Megalocornea; Metaphyseal widening; Mucopolysacchariduria; Myelopathy; Narrow forehead; Neonatal hypotonia; Opacification of the corneal stroma; Osteopenia; Ovoid vertebral bodies; Palpebral edema; Pathologic fracture; Progressive alveolar ridge hypertropy; Protuberant abdomen; Recurrent bronchitis; Recurrent otitis media; Recurrent pneumonia; Retinal degeneration; Scoliosis; Severe global developmental delay; Severe postnatal growth retardation; Shallow acetabular fossae; Short long bone; Short ribs; Short stature; Soft tissue swelling of interphalangeal joints; Sparse and thin eyebrow; Specific learning disability; Splenomegaly; Split hand; Talipes equinovarus; Thickened calvaria; Thickened skin; Thin skin; Thoracolumbar kyphoscoliosis; Umbilical hernia; Varus deformity of humeral neck; Wide intermamillary distance
HADH4q25100%gene with protein product601609HADHSCAbnormality of acetylcarnitine metabolism; Autosomal recessive inheritance; Confusion; Decreased activity of 3-hydroxyacyl-CoA dehydrogenase; Diarrhea; Dicarboxylic aciduria; Dilated cardiomyopathy; Elevated hepatic transaminases; Fasting hyperinsulinemia; Feeding difficulties in infancy; Fulminant hepatic failure; Generalized hypotonia; Growth delay; Hepatic necrosis; Hepatic steatosis; Heterogeneous; Hyperinsulinemic hypoglycemia; Hypertrophic cardiomyopathy; Hypoglycemic coma; Hypoglycemic encephalopathy; Hypoglycemic seizures; Hypoketotic hypoglycemia; Increased C-peptide level; Increased circulating free fatty acid level; Intellectual disability; Intrauterine growth retardation; Lethargy; Muscular hypotonia; Myoglobinuria; Neonatal hypoglycemia; Neonatal hypotonia; Phenotypic variability; Proportionate short stature; VomitingRhabdomyolysis
HIST1H1E6p22.2100%gene with protein product142220H1F4Accelerated skeletal maturation; Amblyopia; Astigmatism; Autosomal dominant inheritance; Camptodactyly; Full cheeks; Global developmental delay; Hypertonia; Intellectual disability; Kyphoscoliosis; Macrocephaly; Neonatal hypotonia; Nevus; Strabismus; Talipes equinovarus; Telecanthus
HNF1A12q24.31100%gene with protein product142410MODY3, TCF1Abnormality of fatty-acid metabolism; Agitation; Autosomal dominant inheritance; Coma; Diarrhea; Drowsiness; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Hepatocellular adenoma; Hepatomegaly; Hyperglycemia; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hypoketotic hypoglycemia; Infantile onset; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Neonatal hypoglycemia; Neonatal hypotonia; Pallor; Pancreatic islet-cell hyperplasia; Polycystic ovaries; Progressive neurologic deterioration; Renal cell carcinoma; Seizures; Sporadic; Tachycardia; Tremor; Type I diabetes mellitus; Type II diabetes mellitus; Vomiting
HNF4A20q13.12100%gene with protein product600281TCF14, MODY, MODY1Abnormality of fatty-acid metabolism; Agitation; Aminoaciduria; Autosomal dominant inheritance; Coma; Diabetes mellitus; Diarrhea; Drowsiness; Elevated alkaline phosphatase; Elevated hepatic transaminases; Fasting hypoglycemia; Fatigue; Glycosuria; Hepatomegaly; Hyperhidrosis; Hyperinsulinemic hypoglycemia; Hyperphosphaturia; Hypoglycemia; Hypoketotic hypoglycemia; Hypophosphatemic rickets; Hypouricemia; Increased hepatic glycogen content; Intellectual disability; Large for gestational age; Lethargy; Maturity-onset diabetes of the young; Metabolic ketoacidosis; Multicystic kidney dysplasia; Neonatal hypoglycemia; Neonatal hypotonia; Nephrocalcinosis; Pallor; Pancreatic islet-cell hyperplasia; Progressive neurologic deterioration; Proteinuria; Renal Fanconi syndrome; Rickets; Seizures; Short stature; Tachycardia; Tremor; Vomiting
HSD17B45q23.199.97%gene with protein product601860Abnormal facial shape; Aplasia/Hypoplasia of the cerebellum; Autosomal recessive inheritance; Bile duct proliferation; Calcific stippling; Cerebral dysmyelination; Cholestasis; Corpus callosum atrophy; Cortical dysplasia; Decreased muscle mass; Delayed cranial suture closure; Delayed skeletal maturation; Depressed nasal bridge; Elevated hepatic transaminases; Epicanthus; Failure to thrive; Feeding difficulties in infancy; Fetal ascites; Frontal bossing; Gait ataxia; Generalized cerebral atrophy/hypoplasia; Gliosis; Global developmental delay; Gonadal dysgenesis; Hammertoe; Hepatic steatosis; Hepatomegaly; High forehead; High palate; Hypertelorism; Hypoplasia of the corpus callosum; Increased circulating gonadotropin level; Infantile onset; Large fontanelles; Limited extraocular movements; Long philtrum; Low-set ears; Macrocephaly; Micrognathia; Neonatal hypotonia; Nystagmus; Osteopenia; Osteoporosis; Pectus excavatum; Pes cavus; Phenotypic variability; Polyhydramnios; Polymicrogyria; Primary adrenal insufficiency; Primary amenorrhea; Renal cyst; Retrognathia; Scaphocephaly; Scoliosis; Seizures; Sensorineural hearing impairment; Short stature; Split hand; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Undetectable electroretinogram; Upslanted palpebral fissure; Ventriculomegaly; Visual impairment; Visual loss
IER3IP118q21.1100%gene with protein product609382Anteverted nares; Autosomal recessive inheritance; Brisk reflexes; Congenital onset; Cortical gyral simplification; Delayed myelination; Diabetes mellitus; Feeding difficulties; Full cheeks; Generalized myoclonic seizures; Global developmental delay; High palate; Hypoplasia of the corpus callosum; Hypsarrhythmia; Intellectual disability, profound; Jaundice; Microcephaly; Muscular hypotonia of the trunk; Narrow forehead; Neonatal hypotonia; Ptosis; Recurrent respiratory infections; Tented upper lip vermilion
ITGA712q13.2100%gene with protein product600536Autosomal recessive inheritance; Cognitive impairment; Congenital muscular dystrophy; Elevated serum creatine phosphokinase; Fatty replacement of skeletal muscle; Increased variability in muscle fiber diameter; Infantile muscular hypotonia; Infantile onset; Intellectual disability; Motor delay; Muscular hypotonia; Myopathy; Neonatal hypotonia; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Skeletal muscle atrophyRhabdomyolysis
KAT6A8p11.2199.99%gene with protein product601408ZNF220, RUNXBP2, MYST3Abnormality of the dentition; Atrial septal defect; Autosomal dominant inheritance; Broad nasal tip; Cortical visual impairment; Craniosynostosis; Downturned corners of mouth; Epicanthus; Feeding difficulties; Global developmental delay; Intellectual disability; Low-set ears; Microcephaly; Microretrognathia; Muscular hypotonia; Narrow forehead; Neonatal hypotonia; Neonatal respiratory distress; Patent ductus arteriosus; Plagiocephaly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Respiratory distress; Strabismus; Thin upper lip vermilion; Ventricular septal defect
LYRM46p25.199.99%gene with protein product613311C6orf149Autosomal recessive inheritance; Failure to thrive; Feeding difficulties; Hepatic steatosis; Lactic acidosis; Neonatal hypotonia; Respiratory distress
MAG19q13.199.99%gene with protein product159460GMAAreflexia of lower limbs; Astigmatism; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cognitive impairment; Corpus callosum atrophy; Dysmetria; Global developmental delay; Hypermetropia; Hyporeflexia of lower limbs; Neonatal hypotonia; Nystagmus; Optic atrophy; Peripheral neuropathy; Reduced visual acuity; Slow progression; Spastic dysarthria; Spastic paraparesisAutoimmune Disorders ; Nephrotic Syndrome ; Obesity
MAGEL215q11.2100%gene with protein product605283NDNL1Abdominal obesity; Almond-shaped palpebral fissure; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Clinodactyly; Clitoral hypoplasia; Coarse facial features; Constipation; Cryptorchidism; Cutaneous photosensitivity; Decreased fetal movement; Decreased muscle mass; Delayed puberty; Delayed speech and language development; Dolichocephaly; Downturned corners of mouth; Esotropia; Failure to thrive in infancy; Feeding difficulties; Flexion contracture; Generalized hypopigmentation; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hyperinsulinemia; Hypermetropia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypoplastic labia minora; Hypoventilation; Impaired pain sensation; Infantile onset; Infertility; Intellectual disability; Kyphosis; Micropenis; Motor delay; Myopia; Narrow forehead; Narrow nasal bridge; Narrow palm; Nasal speech; Neonatal hypotonia; Obesity; Oligomenorrhea; Open mouth; Polyphagia; Poor gross motor coordination; Poor suck; Recurrent respiratory infections; Scoliosis; Short foot; Short palm; Short stature; Sleep apnea; Small hand; Specific learning disability; Sporadic; Thin upper lip vermilion; VentriculomegalyObesity
MED12Xq13.199.99%gene with protein product300188TNRC11, FGS1Abnormal heart morphology; Abnormality of the genitourinary system; Abnormality of the nasopharynx; Abnormality of the rib cage; Abnormality of the sternum; Abnormally folded helix; Agenesis of corpus callosum; Aggressive behavior; Anal atresia; Anal stenosis; Anteriorly placed anus; Aortic root aneurysm; Aplasia/Hypoplasia of the corpus callosum; Arachnodactyly; Atrial septal defect; Attention deficit hyperactivity disorder; Autism; Blepharophimosis; Broad hallux; Broad thumb; Bulbous nose; Cafe-au-lait spot; Camptodactyly; Choanal atresia; Cleft palate; Cleft upper lip; Clinodactyly; Coarse facial features; Constipation; Cryptorchidism; Decreased body weight; Deep philtrum; Delayed closure of the anterior fontanelle; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Downslanted palpebral fissures; Emotional lability; Epicanthus; Facial wrinkling; Feeding difficulties; Fine hair; Flexion contracture; Frontal bossing; Frontal upsweep of hair; Generalized hypotonia; Global developmental delay; Hearing impairment; Heterotopia; High forehead; High palate; High pitched voice; Hydrocephalus; Hyperactivity; Hypertelorism; Hypoplasia of the maxilla; Hypospadias; Impaired social interactions; Inguinal hernia; Intellectual disability; Intestinal malrotation; Joint contracture of the hand; Joint hyperflexibility; Joint hypermobility; Joint laxity; Long face; Long nose; Long philtrum; Low frustration tolerance; Low-set ears; Lumbar hyperlordosis; Macrocephaly; Macroorchidism; Micrognathia; Microtia, first degree; Motor delay; Multiple joint contractures; Muscular hypotonia; Narrow face; Narrow mouth; Narrow nasal bridge; Narrow palate; Nasal speech; Neonatal hypotonia; Neurological speech impairment; Obsessive-compulsive behavior; Open mouth; Partial agenesis of the corpus callosum; Pectus excavatum; Plagiocephaly; Postnatal macrocephaly; Prominent fingertip pads; Prominent forehead; Prominent nasal bridge; Prominent nose; Psychosis; Ptosis; Pyloric stenosis; Radial deviation of finger; Sacral dimple; Scoliosis; Scrotal hypoplasia; Seizures; Sensorineural hearing impairment; Short neck; Short philtrum; Short stature; Single transverse palmar crease; Skin tags; Smooth philtrum; Sparse hair; Split hand; Strabismus; Syndactyly; Thick lower lip vermilion; Thin upper lip vermilion; Thin vermilion border; Umbilical hernia; Ventricular septal defect; Wide anterior fontanel; Wide mouth; Wide nasal bridge; X-linked recessive inheritance
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
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
MRPS1610q22.2100%gene with protein product609204Abnormal facial shape; Agenesis of corpus callosum; Autosomal recessive inheritance; Brachydactyly; Congenital onset; Edema; Elevated hepatic transaminases; Feeding difficulties in infancy; Heterogeneous; Hypokinesia; Increased serum lactate; Lactic acidosis; Lethargy; Low-set ears; Neonatal hypotonia; Patent ductus arteriosus; Redundant neck skin; Small for gestational age; Ventriculomegaly
MUSK9q31.3100%gene with protein product601296Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Cryptorchidism; Cystic hygroma; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Facial palsy; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Infantile onset; Intrauterine growth retardation; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neck muscle weakness; Neonatal hypotonia; Ophthalmoplegia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
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
NADK25p13.299.99%gene with protein product615787C5orf33, NADKD1Autosomal recessive inheritance; Cerebral atrophy; Choreoathetosis; Cortical visual impairment; Death in infancy; Decreased plasma free carnitine; Dystonia; Encephalopathy; Failure to thrive; Global developmental delay; Hyperlysinemia; Leukodystrophy; Microcephaly; Muscular hypotonia; Neonatal hypotonia; Nystagmus; Seizures; Spasticity; Tetraplegia; Ventriculomegaly
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
NEXMIFXq13.3100%gene with protein product300524KIAA2022Absent speech; Autistic behavior; Cerebral cortical atrophy; Congenital onset; Esotropia; Failure to thrive; Gastroesophageal reflux; Global developmental delay; Growth delay; Hyperactivity; Hypoplasia of the corpus callosum; Intellectual disability; Microcephaly; Muscular hypotonia of the trunk; Neonatal hypotonia; Poor eye contact; Postnatal microcephaly; Round face; Seizures; Severe global developmental delay; Shawl scrotum; Short nose; Short philtrum; Spasticity; Stereotypy; Tented upper lip vermilion; Tetraparesis; Ventriculomegaly; X-linked recessive inheritance
NONOXq13.1100%gene with protein product300084Aggressive behavior; Ataxia; Dental crowding; Frontal bossing; Generalized hypotonia; Hallux valgus; High, narrow palate; Increased head circumference; Intellectual disability; Joint laxity; Kyphosis; Left ventricular noncompaction; Long face; Malar flattening; Mild global developmental delay; Motor delay; Myopia; Narrow mouth; Nasal speech; Neonatal hypotonia; Open mouth; Patent ductus arteriosus; Patent foramen ovale; Perseveration; Pes planus; Prominent nose; Right ventricular hypertrophy; Scoliosis; Seizures; Slender build; Strabismus; Thickened calvaria; Tremor; Upslanted palpebral fissure; Ventricular septal defect; X-linked recessive inheritance
NSD15q35.3100%gene with protein product606681STOAbnormal glucose tolerance; Abnormality of immune system physiology; Abnormality of the fingernails; Abnormality of the metaphysis; Abnormally low-pitched voice; Accelerated skeletal maturation; Adrenocortical carcinoma; Adrenocortical cytomegaly; Advanced eruption of teeth; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Atrial septal defect; Autosomal dominant inheritance; Behavioral abnormality; Broad foot; Broad forehead; Broad thumb; Camptodactyly of finger; Cardiomegaly; Cardiomyopathy; Cavum septum pellucidum; Coarse facial features; Conductive hearing impairment; Cryptorchidism; Dandy-Walker malformation; Deep philtrum; Deep-set nails; Delayed skeletal maturation; Depressed nasal ridge; Diastasis recti; Dolichocephaly; Downslanted palpebral fissures; Enlarged cisterna magna; Enlarged kidney; Expressive language delay; Feeding difficulties in infancy; Fine hair; Frontal bossing; Genu valgum; Global developmental delay; Gonadoblastoma; Hemihypertrophy; Hepatoblastoma; Hepatomegaly; High anterior hairline; High forehead; High palate; High, narrow palate; Hoarse voice; Hypermetropia; Hyperreflexia; Hypertelorism; Hypoglycemia; Hypoplastic toenails; Inguinal hernia; Intellectual disability; Joint laxity; Joint stiffness; Large fontanelles; Large hands; Long foot; Long philtrum; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Macrotia; Mandibular prognathia; Microcephaly; Micrognathia; Midface retrusion; Muscular hypotonia; Myopia; Narrow palate; Neonatal hypoglycemia; Neonatal hypotonia; Nephroblastoma; Nephrocalcinosis; Nephrolithiasis; Nevus flammeus; Nystagmus; Obesity; Omphalocele; Otitis media; Overgrowth; Overgrowth of external genitalia; Pancreatic hyperplasia; Partial agenesis of the corpus callosum; Patent ductus arteriosus; Pes planus; Pointed chin; Poor coordination; Posterior helix pit; Precocious puberty; Prominent forehead; Prominent metopic ridge; Prominent occiput; Proptosis; Redundant skin; Renal cortical cysts; Retrognathia; Round face; Scoliosis; Seizures; Short stature; Small nail; Spasticity; Specific learning disability; Sporadic; Strabismus; Tall stature; Thin nail; Ventricular septal defect; Ventriculomegaly; Vesicoureteral refluxObesity
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
OCRLXq26.199.83%gene with protein product300535Abnormal pupil morphology; Abnormality of calcium-phosphate metabolism; Abnormality of the renal tubule; Abnormality of the voice; Aggressive behavior; Amblyopia; Aminoaciduria; Anxiety; Areflexia; Arthritis; Attention deficit hyperactivity disorder; Benign neoplasm of the central nervous system; Bicarbonaturia; Buphthalmos; Camptodactyly of finger; Cataract; Childhood onset; Chronic kidney disease; Clonus; Cognitive impairment; Congenital cataract; Constipation; Cryptorchidism; Deeply set eye; Dehydration; Dense posterior cortical cataract; Depressivity; Dysphasia; EEG abnormality; Elevated amniotic fluid alpha-fetoprotein; Elevated maternal serum alpha-fetoprotein; Elevated serum acid phosphatase; Elevated serum creatine phosphokinase; Failure to thrive; Feeding difficulties in infancy; Fine hair; Finger swelling; Frontal bossing; Full cheeks; Generalized hypopigmentation; Genu valgum; Glaucoma; Global developmental delay; Glomerulopathy; Hip dislocation; Hypercalciuria; Hypercholesterolemia; Hyperparathyroidism; Hyperphosphaturia; Hypokalemia; Hyponatremia; Hypoplasia of dental enamel; Intellectual disability; Joint hyperflexibility; Joint hypermobility; Joint swelling; Kyphosis; Long face; Low-molecular-weight proteinuria; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Neoplasm of the skin; Nystagmus; Obsessive-compulsive behavior; Osteomalacia; Pathologic fracture; Periventricular cysts; Platyspondyly; Proteinuria; Protruding ear; Proximal renal tubular acidosis; Proximal tubulopathy; Recurrent fractures; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Rickets; Scoliosis; Seizures; Self-injurious behavior; Short stature; Sparse scalp hair; Stereotypy; Subcutaneous nodule; Thrombocytopenia; Ventriculomegaly; Visual impairment; Vitamin D deficiency; Wrist swelling; X-linked recessive inheritance
PCLO7q21.1199.73%gene with protein product604918Autosomal recessive inheritance; Brachycephaly; Cerebellar atrophy; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Decreased body weight; Depressed nasal bridge; Downturned corners of mouth; Full cheeks; Global developmental delay; Hearing impairment; High palate; High, narrow palate; Hyperreflexia; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Long palpebral fissure; Long philtrum; Low-set ears; Macrotia; Muscular hypotonia of the trunk; Neonatal hypotonia; Optic atrophy; Poor head control; Progressive; Progressive microcephaly; Proptosis; Seizures; Short stature; Spasticity
PDHX11p1399.92%gene with protein product608769Abnormality of eye movement; Ataxia; Autosomal recessive inheritance; Congenital onset; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Epicanthus; Global developmental delay; High palate; Hyperalaninemia; Hypertelorism; Increased serum pyruvate; Intellectual disability; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Optic atrophy; Partial agenesis of the corpus callosum; Pectus excavatum; Poor fine motor coordination; Poor gross motor coordination; Seizures; Spastic paraplegia; Spastic tetraplegia; Subependymal cysts; Trigonocephaly; Unsteady gait; Variable expressivity
PDSS26q2199.94%gene with protein product610564C6orf210Autosomal recessive inheritance; Cortical visual impairment; Edema; Feeding difficulties; Increased serum lactate; Neonatal hypotonia; Nephrotic syndrome; Proteinuria; Status epilepticusNephrotic Syndrome
PEX17q21.299.9%gene with protein product602136ZWS1, ZWSAbnormal chorioretinal morphology; Abnormal electroretinogram; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Adrenal hypoplasia; Albuminuria; Amelogenesis imperfecta; Aminoaciduria; Anteverted nares; Aplasia/Hypoplasia of the corpus callosum; Areflexia; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bell-shaped thorax; Bilateral single transverse palmar creases; Brachyturricephaly; Breech presentation; Brushfield spots; Cataract; Cirrhosis; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Convex nasal ridge; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Delayed skeletal maturation; Delayed speech and language development; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Elevated long chain fatty acids; Epicanthus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Glaucoma; Global developmental delay; Hepatic failure; Hepatic fibrosis; Hepatomegaly; Heterogeneous; Heterotopia; High forehead; High palate; High, narrow palate; Hydronephrosis; Hyperoxaluria; Hyperreflexia; Hypertelorism; Hypogonadism; Hypoplasia of dental enamel; Hypoplastic olfactory lobes; Hyporeflexia; Hypospadias; Intellectual disability; Intellectual disability, progressive; Intellectual disability, severe; Intrahepatic biliary dysgenesis; Jaundice; Large hands; Leukodystrophy; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Macroglossia; Malabsorption; Malar flattening; Metatarsus adductus; Microcephaly; Micrognathia; Midface retrusion; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Opacification of the corneal stroma; Optic atrophy; Optic disc pallor; Patent ductus arteriosus; Pigmentary retinopathy; Pili torti; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Protruding tongue; Ptosis; Pulmonary hypoplasia; Pyloric stenosis; Reduced tendon reflexes; Redundant neck skin; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rocker bottom foot; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Subependymal cysts; Talipes equinovarus; Taurodontia; Thin eyebrow; Ulnar deviation of the hand; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ventricular septal defect; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge; Widely patent fontanelles and sutures
PEX101p36.32100%gene with protein product602859Abnormal 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 atrophy; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; Dysarthria; Dysmetric saccades; 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 neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Impaired smooth pursuit; Jaundice; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pachygyria; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; 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; Slow progression; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
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
PEX28q21.13100%gene with protein product170993PXMP3Abnormal chorioretinal morphology; Abnormal heart morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the helix; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Brushfield spots; Camptodactyly; Cataract; Cerebellar atrophy; Cleft palate; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Cubitus valgus; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Difficulty running; Dolichocephaly; Dysarthria; Dysmetria; 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; Hepatic failure; Hepatomegaly; Hepatosplenomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hyporeflexia; Hypospadias; Intellectual disability; Intrahepatic biliary dysgenesis; Intrauterine growth retardation; Jaundice; Large fontanelles; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Macrogyria; Malabsorption; Metatarsus adductus; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Oculomotor apraxia; Opacification of the corneal stroma; Optic atrophy; Optic nerve dysplasia; Palpebral edema; Pigmentary retinopathy; Polymicrogyria; Poor suck; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cortical microcysts; Renal cyst; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Single transverse palmar crease; Skeletal dysplasia; Slow progression; Slow saccadic eye movements; Spasticity; Splenomegaly; Stippled chondral calcification; Strabismus; Talipes equinovarus; Tremor; Underdeveloped supraorbital ridges; Unsteady gait; Upslanted palpebral fissure; Variable expressivity; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX2622q11.21100%gene with protein product608666Abnormal 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; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased liver function; Depressed nasal bridge; Developmental regression; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypospadias; Jaundice; Long philtrum; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; 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; Spasticity; Strabismus; Talipes equinovarus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PEX66p21.1100%gene with protein product601498Abnormal chorioretinal morphology; Abnormal eyelid morphology; Abnormal hair quantity; Abnormal morphology of the nasolacrimal system; Abnormal toenail morphology; Abnormality of dental enamel; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of nail color; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the fingernails; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Arrhythmia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased nerve conduction velocity; Dental crowding; Depressed nasal bridge; Developmental regression; Diabetes mellitus; Dolichocephaly; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epicanthus inversus; Epiphyseal stippling; External ear malformation; External genital hypoplasia; Failure to thrive; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypogonadism; Hypospadias; Intellectual disability; Jaundice; Large hands; Leukonychia; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Neonatal hypotonia; Nyctalopia; Nystagmus; Optic atrophy; Pes planus; Pili torti; Polymicrogyria; Posterior embryotoxon; Premature birth; Primary adrenal insufficiency; Primary amenorrhea; Profound global developmental delay; Progressive muscle weakness; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Renal cyst; Respiratory failure; Respiratory insufficiency; Rod-cone dystrophy; Round face; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nose; Short stature; Single transverse palmar crease; Skeletal dysplasia; Spasticity; Strabismus; Taurodontia; Thin eyebrow; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Ureterocele; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PGAP12q33.198.68%gene with protein product611655Abnormal electroretinogram; Abnormality of the dentition; Autosomal recessive inheritance; Cerebral atrophy; Global developmental delay; Intellectual disability; Macrotia; Microcephaly; Neonatal hypotonia; Retinal dystrophy; Short neck; Short stature; Wide mouth
PLOD11p36.2299.99%gene with protein product153454LLH, PLODAbnormality of metabolism/homeostasis; Abnormality of the hip bone; Aortic dissection; Arachnodactyly; Arterial dissection; Arterial rupture; Atypical scarring of skin; Autosomal recessive inheritance; Bladder diverticulum; Blindness; Blue sclerae; Bruising susceptibility; Congestive heart failure; Decreased fetal movement; Decreased pulmonary function; Dental crowding; Depressed nasal bridge; Disproportionate tall stature; Epicanthus; Gait disturbance; Gastrointestinal hemorrhage; Generalized hypotonia; Generalized joint laxity; Glaucoma; Hyperextensible skin; Inguinal hernia; Joint dislocation; Joint hyperflexibility; Joint laxity; Keratoconus; Kyphosis; Microcornea; Mitral valve prolapse; Molluscoid pseudotumors; Motor delay; Myopia; Neonatal hypotonia; Osteoporosis; Palmoplantar cutis laxa; Pes planus; Premature rupture of membranes; Progressive congenital scoliosis; Recurrent pneumonia; Respiratory insufficiency; Retinal detachment; Retinopathy; Scoliosis; Soft skin; Spontaneous rupture of the globe; Subcutaneous hemorrhage; Talipes equinovarus; Tall stature; Thin skin; Visual impairment
POMK8p11.21100%gene with protein product615247Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormally large globe; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Elevated serum creatine phosphokinase; Feeding difficulties; Flexion contracture; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Infantile onset; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microcephaly; Microphthalmia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Neonatal hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Poor speech; Progressive microcephaly; Reduced visual acuity; Respiratory insufficiency due to muscle weakness; Retinal degeneration; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
POMK8p11.21100%gene with protein product615247Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormally large globe; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Elevated serum creatine phosphokinase; Feeding difficulties; Flexion contracture; Glaucoma; Global developmental delay; Gowers sign; Hydrocephalus; Hypoplasia of penis; Hyporeflexia; Infantile onset; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microcephaly; Microphthalmia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Neonatal hypotonia; Optic atrophy; Pachygyria; Polymicrogyria; Poor head control; Poor speech; Progressive microcephaly; Reduced visual acuity; Respiratory insufficiency due to muscle weakness; Retinal degeneration; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Skeletal muscle atrophy; Specific learning disability; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
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
PURA5q31.399.62%gene with protein product600473Absent speech; Autosomal dominant inheritance; CNS hypomyelination; Delayed myelination; Feeding difficulties; Global developmental delay; High palate; Intellectual disability; Muscular hypotonia; Myoclonus; Myopathic facies; Neonatal hypotonia; Nystagmus; Open mouth; Prominent forehead; Respiratory insufficiency; Seizures; Strabismus; Variable expressivity
RAPSN11p11.2100%gene with protein product601592Abnormality of abdomen morphology; Abnormality of pelvic girdle bone morphology; Absent palmar crease; Absent septum pellucidum; Akinesia; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Blepharophimosis; Camptodactyly of finger; Cavum septum pellucidum; Cerebellar hypoplasia; Cleft palate; Congenital onset; Cryptorchidism; Cystic hygroma; Decreased fetal movement; Depressed nasal bridge; Depressed nasal tip; Easy fatigability; Elbow ankylosis; Excessive daytime somnolence; Feeding difficulties; Fetal akinesia sequence; Generalized amyotrophy; Gowers sign; High palate; High, narrow palate; Hydrocephalus; Hypertelorism; Hypokinesia; Intrauterine growth retardation; Long face; Long philtrum; Micrognathia; Multiple joint contractures; Muscular hypotonia; Narrow mouth; Neonatal hypotonia; Polyhydramnios; Posteriorly rotated ears; Premature birth; Proptosis; Ptosis; Pulmonary hypoplasia; Respiratory insufficiency; Rocker bottom foot; Scoliosis; Short neck; Short palpebral fissure; Short umbilical cord; Slender long bone; Small for gestational age; Small placenta; Talipes equinovarus; Telecanthus; Thin ribs; Thoracic hypoplasia; Ulnar deviation of the hand
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
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
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
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
SDHAF119q13.12100%gene with protein product612848Abnormal mitochondria in muscle tissue; Ataxia; Autosomal recessive inheritance; Babinski sign; Cognitive impairment; Decreased activity of mitochondrial complex II; Developmental regression; Dilated cardiomyopathy; Dystonia; Exercise intolerance; Flexion contracture; Hyperreflexia; Hypertrophic cardiomyopathy; Increased intramyocellular lipid droplets; Increased serum lactate; Infantile onset; Left ventricular noncompaction; Leukoencephalopathy; Muscle weakness; Myoclonus; Neonatal hypotonia; Nystagmus; Ophthalmoplegia; Optic atrophy; Phenotypic variability; Pigmentary retinopathy; Progressive leukoencephalopathy; Ptosis; Ragged-red muscle fibers; Seizures; Short stature; Spasticity; Stress/infection-induced lactic acidosis; Visual impairment
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
SH2B116p11.299.95%gene with protein product608937Aganglionic megacolon; Aggressive behavior; Arachnodactyly; Attention deficit hyperactivity disorder; Autism; Autistic behavior; Broad forehead; Chronic constipation; Chronic kidney disease; Delayed speech and language development; EEG abnormality; Global developmental delay; Hyperinsulinemia; Hyperuricemia; Intellectual disability; Language impairment; Low anterior hairline; Macrocephaly; Malar flattening; Moderate receptive language delay; Narrow mouth; Neonatal hypotonia; No social interaction; Obesity; Oval face; Polyphagia; Prominent nasal bridge; Proteinuria; Renal agenesis; Rod-cone dystrophy; Seizures; Short stature; Vesicoureteral refluxObesity
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
SHANK322q13.3399.21%gene with protein product6062302-3 toe syndactyly; Abnormality of the dentition; Accelerated skeletal maturation; Autism; Autistic behavior; Broad-based gait; Bruxism; Bulbous nose; Clinodactyly of the 5th finger; Concave nasal ridge; Deeply set eye; Delayed speech and language development; Dental malocclusion; Dolichocephaly; Epicanthus; Episodic vomiting; Feeding difficulties; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Heat intolerance; High palate; Hyperactivity; Hyperorality; Hypohidrosis; Hypoplastic toenails; Hyporeflexia; Immunodeficiency; Impaired pain sensation; Intellectual disability, moderate; Large hands; Long eyelashes; Long philtrum; Lymphedema; Macrocephaly; Macrotia; Malar flattening; Motor delay; Neonatal hypotonia; Palpebral edema; Pointed chin; Poor eye contact; Prominent supraorbital ridges; Protruding ear; Ptosis; Sacral dimple; Seizures; Short chin; Sporadic; Strabismus; Tall stature; Thick eyebrow; Toenail dysplasia; Unsteady gait; Wide nasal bridge
SLC12A615q1499.94%gene with protein product604878KCC3, ACCPN2-3 toe syndactyly; Agenesis of corpus callosum; Aqueductal stenosis; Areflexia; Autosomal recessive inheritance; Axonal degeneration/regeneration; Brachycephaly; Decreased motor nerve conduction velocity; Decreased sensory nerve conduction velocity; EEG abnormality; EMG: chronic denervation signs; Facial asymmetry; Facial diplegia; Flexion contracture; Generalized hypotonia; Global developmental delay; Hemiplegia/hemiparesis; High palate; Hypertelorism; Hypoplasia of the maxilla; Increased CSF protein; Intellectual disability; Limb muscle weakness; Limb tremor; Long face; Low anterior hairline; Macrotia; Microcephaly; Motor delay; Motor polyneuropathy; Narrow forehead; Neonatal hypotonia; Onion bulb formation; Peripheral axonal neuropathy; Polyneuropathy; Progressive; Psychosis; Ptosis; Respiratory tract infection; Restrictive deficit on pulmonary function testing; Scoliosis; Seizures; Sensory neuropathy; Short nose; Skeletal muscle atrophy; Tapered finger; Ventriculomegaly; Wide nasal bridge
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
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
SLC6A8Xq2899.65%gene with protein product300036Abnormality of creatine metabolism; Abnormality of metabolism/homeostasis; Aganglionic megacolon; Aggressive behavior; Ataxia; Athetosis; Attention deficit hyperactivity disorder; Autistic behavior; Broad forehead; Cachexia; Chorea; Constipation; Delayed myelination; Delayed speech and language development; Dystonia; Exotropia; Failure to thrive; Feeding difficulties in infancy; Gait disturbance; Generalized hypotonia; Global developmental delay; Hyperactivity; Hypermetropia; Hypertonia; Hypoplasia of the corpus callosum; Ileus; Impaired social interactions; Infantile onset; Intellectual disability; Joint hypermobility; Long face; Malar flattening; Mandibular prognathia; Microcephaly; Midface retrusion; Motor delay; Muscular hypotonia; Myopathic facies; Narrow face; Neonatal hypotonia; Open mouth; Pes cavus; Poor hand-eye coordination; Ptosis; Seizures; Self-mutilation; Short stature; Spasticity; Stereotypy; Tall stature; Underfolded superior helices; Vomiting; X-linked recessive inheritance
SOX1022q13.199.98%gene with protein product602229Abdominal pain; Abnormal eyebrow morphology; Abnormal macular morphology; Abnormal pyramidal signs; Abnormality of the voice; Abnormality of vision; Absent brainstem auditory responses; Aganglionic megacolon; Alacrima; Anosmia; Anterior hypopituitarism; Aplasia of the semicircular canal; Areflexia; Ataxia; Autonomic dysregulation; Autosomal dominant inheritance; Blue irides; Breast hypoplasia; Cafe-au-lait spot; Cerebral dysmyelination; Cerebral hypomyelination; Constipation; Cryptorchidism; Decreased fertility; Decreased lacrimation; Decreased nerve conduction velocity; Decreased testicular size; Delayed puberty; Demyelinating peripheral neuropathy; Dilated vestibule of the inner ear; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysmyelinating leukodystrophy; Erectile abnormalities; Global developmental delay; Hearing impairment; Heterochromia iridis; Heterogeneous; Hypertonia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypopigmentation of hair; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the iris; Hypoplasia of the semicircular canal; Hyporeflexia; Hyposmia; Hypothalamic gonadotropin-releasing hormone deficiency; Ileus; Intellectual disability; Intestinal obstruction; Long-segment aganglionic megacolon; Microcolon; Micropenis; Muscular hypotonia; Muscular hypotonia of the trunk; Myelin outfoldings; Neonatal hypotonia; Nystagmus; Olfactory lobe agenesis; Pectus excavatum; Peripheral demyelination; Peripheral hypomyelination; Peripheral neuropathy; Pes cavus; Phenotypic variability; Premature graying of hair; Prominent nasal bridge; Reduced bone mineral density; Seizures; Sensorineural hearing impairment; Spastic paraparesis; Spastic tetraplegia; Spasticity; Synophrys; Telecanthus; Underdeveloped nasal alae; White eyebrow; White eyelashes; White forelock; Wide nasal bridgeWaardenburg Syndrome
SUMF13p26.1100%gene with protein product607939Abnormality of peripheral nerve conduction; Abnormality of retinal pigmentation; Abnormality of the periventricular white matter; Anteverted nares; Ataxia; Autosomal recessive inheritance; Broad hallux; Broad hallux phalanx; Broad thumb; Cataract; Cerebellar atrophy; Cerebral atrophy; CNS demyelination; Coarse facial features; Coarse hair; Corneal opacity; Depressed nasal bridge; Developmental regression; Dysostosis multiplex; Flat face; Global developmental delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Hypoplastic vertebral bodies; Ichthyosis; Increased CSF protein; Intellectual disability; Joint stiffness; Large forehead; Lower limb hyperreflexia; Macrocephaly; Mucopolysacchariduria; Neonatal hypotonia; Optic atrophy; Periorbital edema; Peripheral demyelination; Prominent forehead; Rapid neurologic deterioration; Retinal degeneration; Seizures; Sensorineural hearing impairment; Short stature; Smooth philtrum; Spasticity; Splenomegaly; Thick eyebrow; Ventriculomegaly; Visual impairment
SUMF13p26.1100%gene with protein product607939Abnormality of peripheral nerve conduction; Abnormality of retinal pigmentation; Abnormality of the periventricular white matter; Anteverted nares; Ataxia; Autosomal recessive inheritance; Broad hallux; Broad hallux phalanx; Broad thumb; Cataract; Cerebellar atrophy; Cerebral atrophy; CNS demyelination; Coarse facial features; Coarse hair; Corneal opacity; Depressed nasal bridge; Developmental regression; Dysostosis multiplex; Flat face; Global developmental delay; Hearing impairment; Hepatomegaly; Hydrocephalus; Hypoplastic vertebral bodies; Ichthyosis; Increased CSF protein; Intellectual disability; Joint stiffness; Large forehead; Lower limb hyperreflexia; Macrocephaly; Mucopolysacchariduria; Neonatal hypotonia; Optic atrophy; Periorbital edema; Peripheral demyelination; Prominent forehead; Rapid neurologic deterioration; Retinal degeneration; Seizures; Sensorineural hearing impairment; Short stature; Smooth philtrum; Spasticity; Splenomegaly; Thick eyebrow; Ventriculomegaly; Visual impairment
TAF67q22.1100%gene with protein product602955TAF2EAutosomal recessive inheritance; Broad hallux; Cryptorchidism; Dental crowding; Global developmental delay; High palate; Highly arched eyebrow; Hirsutism; Hyperactivity; Intellectual disability; Long eyelashes; Long philtrum; Low anterior hairline; Microcephaly; Narrow mouth; Neonatal hypotonia; Poor speech; Prominent nasal bridge; Prominent nose; Short stature; Synophrys; Thick eyebrow; Thin upper lip vermilion; Underdeveloped nasal alae
TBR12q24.2100%gene with protein product604616Abnormal oral frenulum morphology; Abnormality iris morphology; Autistic behavior; Bullet-shaped distal phalanx of the hallux; Camptodactyly of finger; Cataract; Cleft palate; Coloboma; Downslanted palpebral fissures; Failure to thrive; Growth delay; Hand clenching; Hypertelorism; Intellectual disability; Long fingers; Low-set, posteriorly rotated ears; Microphthalmia; Neonatal hypotonia; Seizures; Severe global developmental delay; Short neck; Short philtrum; Small face; Small for gestational age; Toe syndactyly
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; Congenital onset; Decreased fetal movement; Dilated cardiomyopathy; Distal lower limb amyotrophy; Distal lower limb muscle weakness; Dysphagia; EMG: myopathic abnormalities; Facial diplegia; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle weakness; Heterogeneous; High palate; Juvenile onset; Long face; Lumbar hyperlordosis; Motor delay; Muscular hypotonia; Myopathy; Narrow face; Neck muscle weakness; Nemaline bodies; Neonatal hypotonia; Pectus excavatum; Pes cavus; Proximal muscle weakness; Ptosis; Recurrent respiratory infections; Reduced tendon reflexes; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Scoliosis; Shoulder girdle muscle atrophy; Type 1 fibers relatively smaller than type 2 fibers; Variable expressivity; Weak cryRhabdomyolysis
TSFM12q14.193.89%gene with protein product604723Ataxia; Autosomal recessive inheritance; Cognitive impairment; Concentric hypertrophic cardiomyopathy; Death in childhood; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex III; Decreased activity of mitochondrial complex IV; Decreased fetal movement; Dystonia; Elevated serum creatine phosphokinase; Encephalopathy; Feeding difficulties in infancy; Generalized hypotonia; Global developmental delay; Hepatomegaly; Increased serum lactate; Intrauterine growth retardation; Lactic acidosis; Muscle weakness; Neonatal hypotonia; Optic atrophy; Optic neuropathy; Patent ductus arteriosus; Patent foramen ovale; Phenotypic variability; Respiratory failure; Rhabdomyolysis; Seizures; Tremor; Ventriculomegaly; Visual impairment
TUBA822q11.21100%gene with protein product605742TUBAL2Autosomal recessive inheritance; Colpocephaly; Congenital onset; Global developmental delay; Hypoplasia of the brainstem; Hyporeflexia; Intellectual disability, profound; Microcephaly; Neonatal hypotonia; Optic nerve hypoplasia; Polymicrogyria; Seizures
TUFM16p11.2100%gene with protein product602389Autosomal recessive inheritance; Death in infancy; Developmental regression; Encephalopathy; Hepatomegaly; Hyperammonemia; Increased serum lactate; Infantile onset; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Nystagmus; Opisthotonus; Polymicrogyria; Respiratory failure
UPB122q11.23100%gene with protein product606673Autosomal recessive inheritance; Bladder exstrophy; Delayed CNS myelination; Dystonia; Global developmental delay; Infantile onset; Neonatal hypotonia; Neurological speech impairment
UQCC26p21.31100%gene with protein product614461C6orf125, MNF1Aggressive behavior; Autosomal recessive inheritance; Cryptorchidism; Depressed nasal bridge; Epicanthus; Global developmental delay; Hyperactivity; Infantile onset; Intrauterine growth retardation; Metabolic acidosis; Neonatal hypotonia; Poor speech; Postaxial polydactyly; Proximal renal tubular acidosis; Seizures; Synophrys; Upslanted palpebral fissure
VPS13B8q22.2100%gene with protein product607817CHS1, COH1Abnormality of skin pigmentation; Aplasia/Hypoplasia of the tongue; Arachnodactyly; Autosomal recessive inheritance; Cat cry; Cerebellar hypoplasia; Childhood-onset truncal obesity; Chorioretinal dystrophy; Clinodactyly of the 5th finger; Convex nasal ridge; Cubitus valgus; Decreased fetal movement; Delayed puberty; Downslanted palpebral fissures; Facial hypotonia; Failure to thrive in infancy; Feeding difficulties in infancy; Finger syndactyly; Generalized hypotonia; Genu valgum; Gingival overgrowth; Global developmental delay; Growth hormone deficiency; High, narrow palate; Hypoplasia of the maxilla; Hypoplasia of the zygomatic bone; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Laryngomalacia; Leukopenia; Long eyelashes; Low anterior hairline; Lumbar hyperlordosis; Macrodontia; Macrodontia of permanent maxillary central incisor; Microcephaly; Micrognathia; Mitral valve prolapse; Motor delay; Muscular hypotonia; Myopia; Narrow palm; Neonatal hypotonia; Neurological speech impairment; Neutropenia; Obesity; Open mouth; Optic atrophy; Pes planus; Prominent nasal bridge; Reduced number of teeth; Reduced visual acuity; Sandal gap; Seizures; Short metacarpal; Short metatarsal; Short philtrum; Short stature; Single transverse palmar crease; Slender toe; Small for gestational age; Tapered finger; Thick corpus callosum; Thick eyebrow; Thick hair; Thoracic scoliosis; Visual impairment; Weak cryAplastic Anemia ; Bone Marrow Failure Syndromes ; Obesity
VPS5317p13.3100%gene with protein product615850Autosomal recessive inheritance; Cerebellar atrophy; Cerebral atrophy; Flexion contracture; Global developmental delay; Hypoplasia of the corpus callosum; Infantile onset; Intellectual disability; Intellectual disability, profound; Irritability; Microcephaly; Neonatal hypotonia; Opisthotonus; Osteoporosis; Progressive; Progressive microcephaly; Scoliosis; Seizures; Short stature; Spastic tetraplegia


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