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Phenotypes
Myopathy

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABHD53p21.33100%gene with protein product604780Abnormality of blood and blood-forming tissues; Alopecia; Ataxia; Autosomal recessive inheritance; Congenital nonbullous ichthyosiform erythroderma; Ectropion; Everted lower lip vermilion; Hepatic steatosis; Hepatomegaly; Intellectual disability; Microtia; Muscle weakness; Myopathy; Nystagmus; Sensorineural hearing impairment; Strabismus; Subcapsular cataractPalmoplantar keratoderma plus congenital ichthyosis
ACACA17q1299.98%gene with protein product200350ACAC, ACCAutosomal recessive inheritance; Generalized hypotonia; Growth delay; Myopathy
ACADS12q24.31100%gene with protein product606885Abnormality of the cerebral white matter; Autosomal recessive inheritance; Cardiomyopathy; Delayed speech and language development; Episodic metabolic acidosis; Ethylmalonic aciduria; Facial palsy; Failure to thrive; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Lethargy; Myopathy; Neonatal onset; Psychosis; Scoliosis; Seizures
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
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
AGK7q3499.95%gene with protein product610345MULK3-Methylglutaconic aciduria; Autosomal recessive inheritance; Cataract; Congenital cataract; Easy fatigability; Exercise intolerance; Exercise-induced lactic acidemia; Fatigue; Generalized hypotonia; Glaucoma; Growth delay; Hypertrophic cardiomyopathy; Increased serum lactate; Infantile onset; Lactic acidosis; Mitochondrial myopathy; Motor delay; Muscle weakness; Myopathy; Myopia; Nystagmus; Respiratory insufficiency; Strabismus; Variable expressivity
AGL1p21.2100%gene with protein product610860Autosomal recessive inheritance; Broad nasal tip; Cardiomyopathy; Deeply set eye; Depressed nasal bridge; Distal amyotrophy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Full cheeks; Hepatic fibrosis; Hepatomegaly; Hyperlipidemia; Hypertriglyceridemia; Hypoglycemia; Immunodeficiency; Intellectual disability, mild; Malar flattening; Midface retrusion; Muscle weakness; Myopathy; Short stature; Thin upper lip vermilion; Ventricular hypertrophyRhabdomyolysis
AGL1p21.2100%gene with protein product610860Autosomal recessive inheritance; Broad nasal tip; Cardiomyopathy; Deeply set eye; Depressed nasal bridge; Distal amyotrophy; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Full cheeks; Hepatic fibrosis; Hepatomegaly; Hyperlipidemia; Hypertriglyceridemia; Hypoglycemia; Immunodeficiency; Intellectual disability, mild; Malar flattening; Midface retrusion; Muscle weakness; Myopathy; Short stature; Thin upper lip vermilion; Ventricular hypertrophyRhabdomyolysis
ALPL1p36.12100%gene with protein product171760HOPSAbnormality of the dentition; Abnormality of the foot; Abnormality of the voice; Anemia; Anorexia; Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Blue sclerae; Bowing of the legs; Carious teeth; Chondrocalcinosis; Constipation; Craniosynostosis; Death in infancy; Decreased calvarial ossification; Disproportionate short-limb short stature; Dolichocephaly; Elevated plasma pyrophosphate; Elevated urine pyrophosphate; Failure to thrive; Fever; Frontal bossing; Generalized hypotonia; Hypercalcemia; Hypercalciuria; Increased susceptibility to fractures; Intracranial hemorrhage; Irritability; Low alkaline phosphatase; Metaphyseal cupping; Micromelia; Myopathy; Nephrocalcinosis; Osteomalacia; Pathologic fracture; Phosphoethanolaminuria; Platyspondyly; Polyhydramnios; Premature loss of permanent teeth; Premature loss of primary teeth; Proptosis; Rachitic rosary; Recurrent fractures; Recurrent respiratory infections; Rickets; Seizures; Short lower limbs; Short ribs; Short stature; Skin dimple over apex of long bone angulation; Stillbirth; Unossified vertebral bodies; Vertebral clefting; Vomiting; Waddling gait; Widely patent fontanelles and sutures
B3GALNT21q42.399.76%gene with protein product610194Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Autosomal recessive inheritance; Blindness; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Gait disturbance; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the pons; Hyporeflexia; Intellectual disability; Lissencephaly; Macrocephaly; Macrogyria; Metatarsus valgus; Microphthalmia; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Polymicrogyria; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Specific learning disability; Strabismus; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
B4GALT19p21.1100%gene with protein product137060GGTB2Abnormality of coagulation; Autosomal recessive inheritance; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Generalized hypotonia; Global developmental delay; Hydrocephalus; Macrocephaly; Muscular hypotonia; Myopathy
B4GALT19p21.1100%gene with protein product137060GGTB2Abnormality of coagulation; Autosomal recessive inheritance; Dandy-Walker malformation; Elevated serum creatine phosphokinase; Generalized hypotonia; Global developmental delay; Hydrocephalus; Macrocephaly; Muscular hypotonia; Myopathy
CASQ11q23.299.93%gene with protein product114250CASQAutosomal dominant inheritance; Centrally nucleated skeletal muscle fibers; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatiguable weakness of proximal limb muscles; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber tubular inclusions; Muscle weakness; Myalgia; Myopathy; Proximal muscle weaknessRhabdomyolysis
CAVIN117q21.31100%gene with protein productformer name = PTRF603198PTRFAbnormal levels of creatine kinase in blood; Acanthosis nigricans; Atherosclerosis; Atrial fibrillation; Autosomal recessive inheritance; Bradycardia; Constipation; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced myalgia; Failure to thrive; Feeding difficulties; Flexion contracture; Generalized muscle hypertrophy; Generalized muscle weakness; Hepatic steatosis; Hepatomegaly; Hyperinsulinemia; Hyperlordosis; Hypertriglyceridemia; IgA deficiency; Ileus; Infantile onset; Insulin resistance; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Muscle mounding; Muscle stiffness; Muscular dystrophy; Myalgia; Myopathy; Osteopenia; Osteoporosis; Palpitations; Progressive proximal muscle weakness; Prolonged QT interval; Prolonged QTc interval; Prominent umbilicus; Proximal muscle weakness; Pyloric stenosis; Recurrent infections; Scoliosis; Secondary amenorrhea; Skeletal muscle hypertrophy; Spinal rigidity; Splenomegaly; Tachycardia; Thin skin
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
COL12A16q13-q14.1100%gene with protein product120320COL12A1LAbnormality of the palate; Adducted thumb; Areflexia; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Decreased fetal movement; Diaphragmatic weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Flexion contracture; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Increased endomysial connective tissue; Increased laxity of fingers; Increased variability in muscle fiber diameter; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Long toe; Micrognathia; Motor delay; Muscle weakness; Muscular hypotonia; Myopathy; Pes valgus; Respiratory failure; Respiratory insufficiency; Scoliosis; Short neck; Slender finger; Spinal rigidity; Torticollis
COL12A16q13-q14.1100%gene with protein product120320COL12A1LAbnormality of the palate; Adducted thumb; Areflexia; Cachexia; Camptodactyly of finger; Congenital muscular dystrophy; Decreased fetal movement; Diaphragmatic weakness; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Esotropia; Facial palsy; Flexion contracture; Frequent falls; Generalized amyotrophy; Generalized hypotonia; Generalized muscle weakness; High palate; Hip dislocation; Hyperextensibility at wrists; Increased endomysial connective tissue; Increased laxity of fingers; Increased variability in muscle fiber diameter; Joint hypermobility; Joint stiffness; Knee flexion contracture; Kyphoscoliosis; Kyphosis; Long toe; Micrognathia; Motor delay; Muscle weakness; Muscular hypotonia; Myopathy; Pes valgus; Respiratory failure; Respiratory insufficiency; Scoliosis; Short neck; Slender finger; Spinal rigidity; Torticollis
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
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
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
CTNS17p13.2100%gene with protein product606272Abnormality of the voice; Abnormality of thyroid physiology; Abnormality of vitamin D metabolism; Aminoaciduria; Autosomal recessive inheritance; Cerebral atrophy; Constipation; Corneal crystals; Decreased plasma carnitine; Dehydration; Delayed puberty; Delayed skeletal maturation; Diabetes mellitus; Dysphagia; Elevated intracellular cystine; Episodic metabolic acidosis; Exocrine pancreatic insufficiency; Failure to thrive; Failure to thrive in infancy; Frontal bossing; Generalized aminoaciduria; Genu valgum; Glycosuria; Growth abnormality; Growth delay; Hepatomegaly; Hyperchloremic metabolic acidosis; Hyperphosphaturia; Hypohidrosis; Hypokalemia; Hyponatremia; Hypophosphatemia; Hypophosphatemic rickets; Hypopigmentation of hair; Hypopigmentation of the skin; Juvenile onset; Low-molecular-weight proteinuria; Male infertility; Metaphyseal widening; Microscopic hematuria; Myopathy; Nephrolithiasis; Photophobia; Pigmentary retinopathy; Polydipsia; Polyuria; Primary hypothyroidism; Progressive neurologic deterioration; Proteinuria; Rachitic rosary; Recurrent corneal erosions; Reduced visual acuity; Renal Fanconi syndrome; Renal insufficiency; Renal tubular dysfunction; Retinal pigment epithelial mottling; Retinopathy; Rickets; Short stature; Skeletal muscle atrophy; Splenomegaly; Stage 5 chronic kidney disease; Tubulointerstitial abnormality; Visual impairment; Vomiting
EPG518q12.3-q21.100%gene with protein product615068KIAA1632Abnormal posturing; Abnormality of retinal pigmentation; Abnormality of the thymus; Acidosis; Agenesis of corpus callosum; Albinism; Autosomal recessive inheritance; Cardiomyopathy; Cataract; Cellular immunodeficiency; Cerebellar hypoplasia; Cerebellar vermis hypoplasia; Chronic mucocutaneous candidiasis; Cleft palate; Cleft upper lip; Congenital cataract; Congenital onset; Congestive heart failure; Cutaneous anergy; Death in infancy; Decreased proportion of CD4-positive T cells; Decreased T cell activation; Depressed nasal tip; Dilated cardiomyopathy; EEG abnormality; Failure to thrive; Generalized hypotonia; Global developmental delay; Growth delay; High palate; Hypertelorism; Hypopigmentation of the fundus; Hypopigmentation of the skin; Hypoplasia of the pons; IgG deficiency; Immunodeficiency; Immunoglobulin IgG2 deficiency; Intellectual disability; Left ventricular hypertrophy; Low-set ears; Microcephaly; Micrognathia; Motor delay; Muscular hypotonia; Myopathy; Nystagmus; Ocular albinism; Optic atrophy; Penile hypospadias; Recurrent bacterial infections; Recurrent fungal infections; Recurrent respiratory infections; Recurrent viral infections; Renal tubular acidosis; Schizencephaly; Seizures; Short stature; Ureteral atresia; White matter neuronal heterotopiaAlbinism
FKBP147p14.3100%gene with protein product614505Atrophic scars; Autosomal recessive inheritance; Bruising susceptibility; Easy fatigability; Elevated serum creatine phosphokinase; Follicular hyperkeratosis; Hernia; High-frequency sensorineural hearing impairment; Hyperextensible skin; Joint hypermobility; Kyphoscoliosis; Motor delay; Muscular hypotonia; Myopathy; Myopia; Osteopenia; Pes planus; Phenotypic variability; Poor head control; Sensorineural hearing impairment; Severe muscular hypotonia; Skeletal muscle atrophy; Soft skin
FKBP147p14.3100%gene with protein product614505Atrophic scars; Autosomal recessive inheritance; Bruising susceptibility; Easy fatigability; Elevated serum creatine phosphokinase; Follicular hyperkeratosis; Hernia; High-frequency sensorineural hearing impairment; Hyperextensible skin; Joint hypermobility; Kyphoscoliosis; Motor delay; Muscular hypotonia; Myopathy; Myopia; Osteopenia; Pes planus; Phenotypic variability; Poor head control; Sensorineural hearing impairment; Severe muscular hypotonia; Skeletal muscle atrophy; Soft skin
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
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FKTN9q31.299.98%gene with protein productJapanese founder variant in the 3' UTR of FKTN would not be detected by this test607440FCMDAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Atrial septal defect; Autosomal recessive inheritance; Blindness; Brachycephaly; Buphthalmos; Calf muscle hypertrophy; Camptodactyly of finger; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Delayed speech and language development; Dilated cardiomyopathy; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Encephalocele; Excessive daytime sleepiness; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoglycosylation of alpha-dystroglycan; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pyramidal tract; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macrogyria; Mask-like facies; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myocardial fibrosis; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Pectus excavatum; Peters anomaly; Phenotypic variability; Plagiocephaly; Polymicrogyria; Posterior fossa cyst; Progressive; Proximal muscle weakness; Pulmonic stenosis; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Transposition of the great arteries; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairment; Weak cryMuscular dystropy-dystroglycanopathy (Walker-Warburg)
FLAD11q21.3100%gene with protein product610595Autosomal recessive inheritance; Dysphagia; Exercise intolerance; Fatty replacement of skeletal muscle; Feeding difficulties; Generalized hypotonia; Myopathy; Organic aciduria; Phenotypic variability; Proximal muscle weakness; Respiratory insufficiencyRhabdomyolysis
FLNC7q32.1100%gene with protein product102565FLN2Abnormal peripheral nervous system morphology; Abnormality of the calf musculature; Adult onset; Autosomal dominant inheritance; Cardiomyopathy; Congestive heart failure; Difficulty climbing stairs; Distal lower limb amyotrophy; Distal upper limb amyotrophy; Dyspnea; Elevated serum creatine phosphokinase; Hyporeflexia; Mildly elevated creatine phosphokinase; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle weakness; Myofibrillar myopathy; Myopathy; Proximal muscle weakness; Respiratory insufficiency; Slow progression; Waddling gaitRhabdomyolysis
GCLC6p12.199.93%gene with protein product606857GLCLC, GLCLAbnormality of metabolism/homeostasis; Anemia; Autosomal recessive inheritance; Hemolytic anemia; Late-onset spinocerebellar degeneration; Myopathy; PolyneuropathyHemolytic Anemia
GFER16p13.3100%gene with protein product600924Autosomal recessive inheritance; Cataract; Congenital cataract; Decreased activity of mitochondrial respiratory chain; Global developmental delay; Myopathy; Sensorineural hearing impairment
GKXp21.298.07%gene with protein product300474Adrenal insufficiency; Adrenocortical hypoplasia; Coma; Downturned corners of mouth; Episodic vomiting; Frontal bossing; Global developmental delay; Hypertelorism; Hypertriglyceridemia; Hypoglycemia; Increased urinary glycerol; Intellectual disability; Ketoacidosis; Lethargy; Low-set ears; Metabolic acidosis; Muscular dystrophy; Myopathy; Osteoporosis; Pathologic fracture; Seizures; Short stature; Small for gestational age; Strabismus; X-linked dominant inheritance; X-linked recessive inheritanceHemolytic Anemia ; Nephrotic Syndrome ; Rhabdomyolysis
GMPPB3p21.31100%gene with protein product615320Abnormality of the voice; Absent speech; Ataxia; Autosomal recessive inheritance; Cataract; Cerebellar hypoplasia; Cleft palate; Cognitive impairment; Congenital muscular dystrophy; Congenital onset; Decreased fetal movement; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Exercise intolerance; Feeding difficulties; Gait disturbance; Generalized hypotonia; Generalized limb muscle atrophy; Glaucoma; Global developmental delay; Hydrocephalus; Hypertonia; Hypoplasia of the pons; Intellectual disability; Intellectual disability, severe; Microcephaly; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathic facies; Myopathy; Myopia; Neurological speech impairment; Oligohydramnios; Optic atrophy; Poor head control; Proximal muscle weakness; Seizures; Sensorineural hearing impairment; Strabismus; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
HACD110p12.3399.48%gene with protein product610467PTPLAMuscular hypotonia; Myopathy; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis
HNRNPA112q13.13100%gene with protein product164017HNRPA1Abnormality of the abdominal musculature; Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Brain atrophy; Depressivity; Distal muscle weakness; Dyspnea; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontotemporal dementia; Generalized muscle weakness; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Limb-girdle muscular dystrophy; Mildly elevated creatine phosphokinase; Muscle cramps; Muscle fiber inclusion bodies; Muscular dystrophy; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Proximal muscle weakness; Respiratory failure; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Spasticity; Ubiquitin-positive cerebral inclusion bodies; Waddling gait; Xerostomia
HNRNPA2B17p15.2100%gene with protein product600124HNRPA2B1Abnormality of the skeletal system; Behavioral abnormality; Brain atrophy; Centrally nucleated skeletal muscle fibers; Distal muscle weakness; Elevated alkaline phosphatase; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Frontotemporal dementia; Hip pain; Hyperlordosis; Increased variability in muscle fiber diameter; Muscle fiber atrophy; Muscular dystrophy; Myopathy; Myositis; Osteolysis; Proximal muscle weakness; Rimmed vacuoles; Short stature; Skeletal muscle atrophy; Ubiquitin-positive cerebral inclusion bodies; Waddling gait
HNRNPDL4q21.22100%gene with protein product607137HNRPDLAdult onset; Autosomal dominant inheritance; Cataract; Decreased movement range in interphalangeal joints; Elevated serum creatine phosphokinase; Flexion limitation of toes; Incomplete penetrance; Limb-girdle muscular dystrophy; Myopathy; Pelvic girdle muscle weakness; Proximal lower limb amyotrophy; Proximal upper limb amyotrophy; Rimmed vacuoles; Shoulder girdle muscle weakness; Slow progression
HSPG21p36.1299.87%gene with protein product142461SJS1Abnormal eyebrow morphology; Abnormal vertebral ossification; Abnormality of epiphysis morphology; Abnormality of femoral epiphysis; Abnormality of pelvic girdle bone morphology; Abnormality of the abdominal wall; Abnormality of the metaphysis; Abnormality of the pharynx; Anisospondyly; Anterior bowing of long bones; Arthrogryposis multiplex congenita; Atrial septal defect; Autosomal recessive inheritance; Blepharophimosis; Blue sclerae; Bowing of the long bones; Calvarial skull defect; Cataract; Cleft palate; Congenital hip dislocation; Coronal cleft vertebrae; Coxa valga; Coxa vara; Cryptorchidism; Decreased testicular size; Delayed skeletal maturation; Depressed nasal ridge; Disproportionate short-limb short stature; Elevated aldolase level; Elevated serum creatine phosphokinase; EMG abnormality; Everted lower lip vermilion; Flat face; Flexion contracture of toe; Full cheeks; Gait disturbance; Generalized hirsutism; Genu valgum; High palate; High pitched voice; Hip contracture; Hip dysplasia; Hyperlordosis; Hypertonia; Hyporeflexia; Inguinal hernia; Intellectual disability; Joint contracture of the hand; Joint stiffness; Kyphoscoliosis; Kyphosis; Long eyelashes in irregular rows; Low-set ears; Low-set, posteriorly rotated ears; Lumbar hyperlordosis; Malar flattening; Malignant hyperthermia; Mask-like facies; Metaphyseal widening; Metatarsus valgus; Microcornea; Micrognathia; Micromelia; Muscle weakness; Myopathy; Myopia; Myotonia; Narrow chest; Narrow mouth; Neonatal death; Osteoporosis; Overfolded helix; Overgrowth; Pectus carinatum; Pes planus; Platyspondyly; Posteriorly rotated ears; Prominent nasal bridge; Ptosis; Pulmonary hypoplasia; Pursed lips; Respiratory insufficiency; Scoliosis; Short long bone; Short neck; Short stature; Shoulder flexion contracture; Skeletal dysplasia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spinal rigidity; Strabismus; Talipes equinovarus; Thoracic hypoplasia; Trismus; Umbilical hernia; Visual impairment; Weak voice; Wide nasal bridge; Wrist flexion contracture
INPP5K17p13.399.99%gene with protein product607875Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Cerebellar hypoplasia; Coxa valga; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Generalized hypotonia; Global developmental delay; Gowers sign; Hip dislocation; Hip dysplasia; Hyperlordosis; Hypogonadism; Increased adipose tissue; Intellectual disability; Metatarsus valgus; Motor delay; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Progressive; Rigidity; Scoliosis; Severe short stature; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; Spinal rigidity; Strabismus; Toe walking
ISCU12q23.3100%gene with protein productThe common intronic variant is not detectable by XomeDxSlice.611911NIFUNAbnormal iron deposition in mitochondria; Autosomal recessive inheritance; Decreased activity of mitochondrial complex I; Decreased activity of mitochondrial complex II; Decreased activity of mitochondrial complex III; Dyspnea; Elevated serum creatine phosphokinase; Exercise intolerance; Increased intramyocellular lipid droplets; Increased serum lactate; Juvenile onset; Lactic acidosis; Mitochondrial myopathy; Muscle cramps; Muscle weakness; Myoglobinuria; Myopathy; Palpitations; Sideroblastic anemia; Subsarcolemmal accumulations of abnormally shaped mitochondriaRhabdomyolysis
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
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
KBTBD1315q22.31100%gene with protein product613727Autosomal dominant inheritance; Difficulty climbing stairs; Difficulty running; Exercise intolerance; Gait disturbance; Limb muscle weakness; Muscle stiffness; Myopathy; Neck flexor weakness; Nemaline bodies; Slow progressionRhabdomyolysis
LARGE122q12.3100%gene with protein productFormer name = LARGE603590LARGEAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of neuronal migration; Abnormality of the periventricular 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; Babinski sign; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; EEG abnormality; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Glaucoma; Global developmental delay; Heterogeneous; Horizontal nystagmus; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Joint contracture of the hand; Lissencephaly; Lower limb hyperreflexia; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Short stature; Skeletal muscle atrophy; Specific learning disability; Strabismus; Thick cerebral cortex; Type II lissencephaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg)
LMNA1q22100%gene with protein product150330LMN1, CMD1A, LGMD1B, PRO1, LMNL1Abnormal atrioventricular conduction; Abnormal cellular phenotype; Abnormal electrophysiology of sinoatrial node origin; Abnormal eyebrow morphology; Abnormal hair whorl; Abnormal trabecular bone morphology; Abnormality of circulating leptin level; Abnormality of retinal pigmentation; Abnormality of the Achilles tendon; Abnormality of the cerebral vasculature; Abnormality of the foot; Abnormality of the intrahepatic bile duct; Abnormality of the nail; Abnormality of the pinna; Abnormality of the pulmonary artery; Abnormality of the testis; Abnormality of the voice; Absence of pubertal development; Absence of subcutaneous fat; Absent eyebrow; Absent eyelashes; Acanthosis nigricans; Accelerated atherosclerosis; Achilles tendon contracture; Acroosteolysis of distal phalanges (feet); Acute pancreatitis; Adipose tissue loss; Adrenal hypoplasia; Advanced eruption of teeth; Alopecia; Alopecia universalis; Aminoaciduria; Angina pectoris; Aortic atherosclerosis; Aortic root aneurysm; Aortic valve calcification; Aortic valve stenosis; Aplasia of the middle phalanx of the hand; Aplasia of the phalanges of the 3rd toe; Aplasia/Hypoplasia involving the nose; Aplasia/Hypoplasia of the clavicles; Aplasia/Hypoplasia of the earlobes; Aplasia/Hypoplasia of the eyebrow; Aplasia/Hypoplastia of the eccrine sweat glands; Aplastic clavicles; Areflexia; Arrhythmia; Arteriosclerosis of small cerebral arteries; Arthrogryposis multiplex congenita; Atherosclerosis; Atrial arrhythmia; Atrial fibrillation; Atrial flutter; Atrial septal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Axial muscle weakness; Axonal degeneration/regeneration; Basal cell carcinoma; Bilateral coxa valga; Bird-like facies; Blepharophimosis; Brachydactyly; Bradycardia; Broad-based gait; Calcinosis; Calf muscle hypertrophy; Choanal atresia; Chondrocalcinosis; Clinodactyly; Congenital muscular dystrophy; Congenital pseudoarthrosis of the clavicle; Congestive heart failure; Convex nasal ridge; Coronary artery atherosclerosis; Craniofacial disproportion; Cyanosis; Decreased adiponectin level; Decreased calvarial ossification; Decreased cervical spine flexion due to contractures of posterior cervical muscles; Decreased circulating high-density lipoprotein levels; Decreased fertility; Decreased fetal movement; Decreased motor nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased serum estradiol; Decreased serum leptin; Decreased skull ossification; Decreased testosterone in males; Delayed cranial suture closure; Delayed eruption of teeth; Delayed puberty; Dental crowding; Dermal atrophy; Dermal translucency; Diabetes mellitus; Difficulty climbing stairs; Difficulty running; Difficulty walking; Dilated cardiomyopathy; Distal amyotrophy; Distal lower limb amyotrophy; Distal muscle weakness; Distal sensory impairment; Down-sloping shoulders; Downslanted palpebral fissures; Elbow flexion contracture; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Emphysema; Enlarged peripheral nerve; Entropion; Epidermal hyperkeratosis; Failure to thrive; Fasting hyperinsulinemia; Fatiguable weakness of proximal limb muscles; Feeding difficulties; Flexion contracture; Foot dorsiflexor weakness; Fragile nails; Full cheeks; Gait disturbance; Generalized amyotrophy; Generalized hyperkeratosis; Generalized lipodystrophy; Generalized osteoporosis; Global developmental delay; Glucose intolerance; Glycosuria; Growth delay; Hepatic steatosis; Hepatomegaly; Heterogeneous; High palate; High pitched voice; Hirsutism; Hydropic placenta; Hypercholesterolemia; Hyperglycemia; Hypergonadotropic hypogonadism; Hyperinsulinemia; Hyperkeratosis; Hyperlipidemia; Hyperlordosis; Hypermetropia; Hyperphosphatemia; Hypertelorism; Hypertension; Hypertriglyceridemia; Hypodontia; Hypogonadism; Hypogonadotrophic hypogonadism; Hypohidrosis; Hypoplasia of teeth; Hypoplastic facial bones; Hypoplastic nipples; Hyporeflexia; Hypospadias; Hypotrichosis; Increased adipose tissue around the neck; Increased anterioposterior diameter of thorax; Increased facial adipose tissue; Increased intraabdominal fat; Increased intramuscular fat; Infertility; Insulin resistance; Insulin-resistant diabetes mellitus; Intermittent claudication; Intervertebral disc degeneration; Intracranial hemorrhage; Intrauterine growth retardation; Joint stiffness; Juvenile onset; Keratoconjunctivitis sicca; Kyphoscoliosis; Kyphosis; Labial pseudohypertrophy; Lack of skin elasticity; Large fontanelles; Laryngomalacia; Limb muscle weakness; Limb-girdle muscle atrophy; Limb-girdle muscle weakness; Limb-girdle muscular dystrophy; Limitation of joint mobility; Lipoatrophy; Lipodystrophy; Loss of subcutaneous adipose tissue in limbs; Loss of truncal subcutaneous adipose tissue; Low-set ears; Macrotia; Malar flattening; Meningioma; Metaphyseal widening; Micrognathia; Midface retrusion; Mildly elevated creatine phosphokinase; Minimal subcutaneous fat; Mitral regurgitation; Mitral valve calcification; Motor delay; Mottled pigmentation; Multiple joint contractures; Muscle hypertrophy of the lower extremities; Muscular dystrophy; Muscular hypotonia; Myalgia; Myocardial infarction; Myopathy; Nail dysplasia; Narrow face; Narrow mouth; Narrow nasal ridge; Narrow nasal tip; Nasal speech; Natal tooth; Neck muscle weakness; Neoplasm of the breast; Neoplasm of the lung; Neoplasm of the oral cavity; Neoplasm of the skin; Neoplasm of the small intestine; Neoplasm of the thyroid gland; Onion bulb formation; Onset; Osteoarthritis; Osteolysis; Osteolytic defects of the distal phalanges of the hand; Osteolytic defects of the phalanges of the hand; Osteopenia; Osteoporosis; Osteosarcoma; Ovarian neoplasm; Overtubulated long bones; Ovoid vertebral bodies; Papillary renal cell carcinoma; Patchy hypo- and hyperpigmentation; Patent ductus arteriosus; Pelvic girdle amyotrophy; Pelvic girdle muscle weakness; Pericardial effusion; Peripheral arterial stenosis; Peripheral axonal atrophy; Peroneal muscle atrophy; Peroneal muscle weakness; Pes cavus; Pes planus; Pili torti; Polycystic ovaries; Polyhydramnios; Poor head control; Postnatal growth retardation; Precocious atherosclerosis; Precocious puberty; Premature arteriosclerosis; Premature birth; Premature coronary artery atherosclerosis; Premature delivery because of cervical insufficiency or membrane fragility; Premature graying of hair; Premature loss of teeth; Premature ovarian insufficiency; Premature rupture of membranes; Premature skin wrinkling; Progeroid facial appearance; Progressive; Progressive clavicular acroosteolysis; Prolonged prothrombin time; Prominent forehead; Prominent scalp veins; Prominent superficial blood vessels; Prominent superficial veins; Proptosis; Proximal muscle weakness; Proximal muscle weakness in upper limbs; Proximal upper limb muscle hypertrophy; Ptosis; Pulmonary carcinoid tumor; Pulmonary hypoplasia; Reduced subcutaneous adipose tissue; Renal neoplasm; Respiratory insufficiency; Respiratory insufficiency due to muscle weakness; Restricted neck movement due to contractures; Reticulated skin pigmentation; Retinal degeneration; Retrognathia; Rocker bottom foot; Round face; Scaling skin; Scapular winging; Scleroderma; Sclerosis of hand bone; Secondary amenorrhea; Sensorineural hearing impairment; Severe muscular hypotonia; Short clavicles; Short distal phalanx of finger; Short nail; Short palm; Short palpebral fissure; Short stature; Short umbilical cord; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Skin erosion; Skin ulcer; Slow progression; Small placenta; Sparse and thin eyebrow; Sparse body hair; Sparse eyebrow; Sparse eyelashes; Sparse hair; Sparse or absent eyelashes; Sparse scalp hair; Spinal rigidity; Squamous cell carcinoma of the skin; Steppage gait; Stiff skin; Stillbirth; Structural foot deformity; Subcutaneous calcification; Submucous cleft hard palate; Sudden cardiac death; Supraventricular arrhythmia; Syncope; Syndactyly; Talipes; Tapering pointed ends of distal finger phalanges; Telangiectasia of the skin; Telecanthus; Temporomandibular joint ankylosis; Thin bony cortex; Thin clavicles; Thin nail; Thin ribs; Thin skin; Thin vermilion border; Thrombocytosis; Type II diabetes mellitus; Upper limb muscle weakness; Ureteral duplication; Variable expressivity; Ventricular arrhythmia; Ventricular hypertrophy; White forelock; Wide nasal bridge; Widely patent fontanelles and sutures; Wormian bones; X-linked inheritance; XanthomatosisHeterotaxy ; Obesity; Palmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
LMNB219p13.3100%gene with protein product150341LMN2Autoimmunity; Autosomal recessive inheritance; Decreased serum complement C3; Gait ataxia; Generalized amyotrophy; Global developmental delay; Hearing impairment; Intellectual disability; Lipoatrophy; Lymphocytosis; Microglossia; Myoclonus; Myopathy; Progeroid facial appearance; Progressive; Scoliosis; Seizures; Short thumb; Status epilepticus; Ventriculomegaly
MAP3K202q31.1100%gene with protein productformer name = ZAK609479Autosomal recessive inheritance; Muscular hypotonia; Myopathy; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Sensorineural hearing impairment
MYH217p13.1100%gene with protein product160740IBM3Autosomal dominant inheritance; Autosomal recessive inheritance; Congenital contracture; Generalized muscle weakness; High palate; Muscle fiber inclusion bodies; Myopathic facies; Myopathy; Neck muscle weakness; Proximal muscle weakness; Variable expressivity
MYL212q24.11100%gene with protein product160781Asymmetric septal hypertrophy; Autosomal dominant inheritance; Chest pain; Dyspnea; Hypertrophic cardiomyopathy; Left ventricular septal hypertrophy; Muscular hypotonia; Myopathy; Palpitations; Pectus excavatum; Recurrent respiratory infections; Reduced tendon reflexes; Scoliosis; Ventricular tachycardia; Vertigo
MYMK9q34.2100%gene with protein product615345TMEM8CAbnormal cardiac septum morphology; Anteverted nares; Aplasia/Hypoplasia of the tongue; Autosomal recessive inheritance; Brachydactyly; Cleft palate; Decreased fetal movement; Depressed nasal bridge; Downslanted palpebral fissures; Dysphagia; Epicanthus; Facial palsy; Failure to thrive; Feeding difficulties; Flexion contracture; Gastroesophageal reflux; Glossoptosis; Growth delay; High palate; Hypoplasia of the brainstem; Impaired ocular abduction; Intellectual disability; Long philtrum; Macrocephaly; Microcephaly; Micrognathia; Muscular hypotonia; Myopathy; Oculomotor nerve palsy; Ophthalmoplegia; Pierre-Robin sequence; Plagiocephaly; Ptosis; Respiratory insufficiency; Retrognathia; Scoliosis; Severe muscular hypotonia; Short nose; Short stature; Skeletal muscle atrophy; Talipes equinovarus; Tapered finger; Thin vermilion border; Trismus; Ventriculomegaly
MYO18B22q12.1100%gene with protein product607295Acetabular dysplasia; Autosomal recessive inheritance; Bulbous nose; Everted lower lip vermilion; Fused cervical vertebrae; Long philtrum; Low posterior hairline; Low-set ears; Microcephaly; Micrognathia; Mild short stature; Myopathy; Ptosis; Short neck; Thin upper lip vermilion; Thoracolumbar scoliosis; Underdeveloped nasal alae; Webbed neck
MYOT5q31.299.92%gene with protein product604103TTID, LGMD1A, LGMD1Absent Achilles reflex; Achilles tendon contracture; Adult onset; Areflexia; Autophagic vacuoles; Autosomal dominant inheritance; Broad-based gait; Cardiomyopathy; Difficulty climbing stairs; Difficulty standing; Distal amyotrophy; Distal muscle weakness; Dysphagia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Fatty replacement of skeletal muscle; Foot dorsiflexor weakness; Heterogeneous; Hip flexor weakness; Hyporeflexia; Hyporeflexia of lower limbs; Inability to walk; Increased endomysial connective tissue; Increased variability in muscle fiber diameter; Late-onset distal muscle weakness; Limited elbow flexion; Limited knee flexion/extension; Muscle fiber cytoplasmatic inclusion bodies; Muscle fiber splitting; Muscle stiffness; Muscular dystrophy; Myalgia; Myofibrillar myopathy; Myopathy; Nasal speech; Nasal, dysarthic speech; Neck flexor weakness; Onset; Pelvic girdle muscle weakness; Polyneuropathy; Progressive distal muscle weakness; Proximal amyotrophy; Proximal muscle weakness; Rimmed vacuoles; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Slow progression; Variable expressivity; Waddling gaitRhabdomyolysis
NARS211q14.198.51%gene with protein product612803DFNB94Agenesis of corpus callosum; Autosomal recessive inheritance; Cortical visual impairment; Elevated serum creatine phosphokinase; Facial palsy; Feeding difficulties; Focal segmental glomerulosclerosis; Generalized hypotonia; Gliosis; Increased serum lactate; Microcephaly; Muscular hypotonia; Myopathy; Neurodegeneration; Neuronal loss in central nervous system; Nystagmus; Optic atrophy; Phenotypic variability; Proximal muscle weakness; Ptosis; Skeletal muscle atrophy; Spasticity
NEFH22q12.2100%gene with protein product162230Amyotrophic lateral sclerosis; Anxiety; Autosomal dominant inheritance; Depressivity; Distal sensory impairment; Dyspnea; Emotional lability; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frequent falls; Generalized muscle weakness; Hyporeflexia; Increased variability in muscle fiber diameter; Muscle cramps; Muscle fiber splitting; Myopathy; Neurodegeneration; Pain; Paralysis; Pes cavus; Progressive; Pyloric stenosis; Ragged-red muscle fibers; Respiratory failure; Rimmed vacuoles; Sensory axonal neuropathy; Skeletal muscle atrophy; Spasticity; Variable expressivity; Waddling gait; Xerostomia
OPA13q2999.94%gene with protein product605290Abnormal amplitude of pattern reversal visual evoked potentials; Abnormal auditory evoked potentials; Abnormality of color vision; Achilles tendon contracture; Adductor longus contractures; Apnea; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Breech presentation; Caesarian section; Central scotoma; Centrocecal scotoma; Cerebellar atrophy; Dysmetria; Feeding difficulties in infancy; Gait disturbance; Hamstring contractures; Horizontal nystagmus; Hyperreflexia; Hypertrophic cardiomyopathy; Impaired pain sensation; Incomplete penetrance; Increased variability in muscle fiber diameter; Insidious onset; Intellectual disability; Motor delay; Muscular hypotonia of the trunk; Myopathy; Nystagmus; Ophthalmoplegia; Opisthotonus; Optic atrophy; Peripheral neuropathy; Phenotypic variability; Profound global developmental delay; Progressive; Progressive sensorineural hearing impairment; Progressive spasticity; Progressive visual loss; Ptosis; Red-green dyschromatopsia; Reduced tendon reflexes; Reduced visual acuity; Retinal degeneration; Sensorineural hearing impairment; Skeletal muscle atrophy; Strabismus; Tremor; Tritanomaly; Visual impairment; Weak cry
ORAI112q24.3199.36%gene with protein product610277TMEM142AAbnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Anemia; Areflexia of lower limbs; Asplenia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty walking; Ectodermal dysplasia; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Failure to thrive; Fatiguable weakness of proximal limb muscles; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Gowers sign; Heat intolerance; High forehead; Hypocalcemia; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscular hypotonia; Myalgia; Myopathy; Neurological speech impairment; Proximal muscle weakness; Purpura; Recurrent aphthous stomatitis; Recurrent infections; Respiratory insufficiency due to muscle weakness; Short stature; Slow progression; Spinal rigidityAutoimmune Disorders ; Ectodermal Dysplasia
PABPN114q11.299.76%gene with protein productRepeat expansion disorder detectable by XomeDxSlice.602279OPMD, PABP2Abnormality of the pharynx; Adult onset; Autosomal dominant inheritance; Distal muscle weakness; Dysarthria; Dysphagia; Elevated serum creatine phosphokinase; Facial palsy; Gait disturbance; Limb muscle weakness; Mask-like facies; Myopathy; Neck muscle weakness; Ophthalmoplegia; Progressive; Progressive ptosis; Proximal muscle weakness; Ptosis; Ragged-red muscle fibers; Rimmed vacuoles; Spondylolisthesis
PANK220p13100%gene with protein product606157C20orf48, NBIA1Abnormal pyramidal signs; Abnormality of the foot; Acanthocytosis; Akinesia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Blepharospasm; Bradykinesia; Cerebral degeneration; Choreoathetosis; Decreased circulating low-density lipoprotein levels; Decreased muscle mass; Dementia; Depressivity; Dysarthria; Dysphagia; Dysphonia; Dystonia; Eye of the tiger anomaly of globus pallidus; Eyelid apraxia; Facial grimacing; Feeding difficulties in infancy; Gait disturbance; Global brain atrophy; Global developmental delay; Hyperactivity; Hyperpigmentation of the skin; Juvenile onset; Motor tics; Myopathy; Neurodegeneration; Obsessive-compulsive trait; Optic atrophy; Orofacial dyskinesia; Pallidal degeneration; Parkinsonism; Pigmentary retinopathy; Rapidly progressive; Retinal degeneration; Rigidity; Rod-cone dystrophy; Slow progression; Spasticity; Tremor; Urinary incontinence
PGAM27p13100%gene with protein product612931Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise intolerance; Exercise-induced muscle cramps; Exercise-induced myalgia; Myoglobinuria; Myopathy; Renal insufficiency; RhabdomyolysisRhabdomyolysis
PLEC8q24.3100%gene with protein product601282EBS1, PLEC1Abnormal blistering of the skin; Abnormality of dental enamel; Abnormality of the genitourinary system; Abnormality of the stomach; Alopecia; Anemia; Anonychia; Aphasia; Aplasia cutis congenita; Aplasia of the bladder; Arthrogryposis multiplex congenita; Atrophic scars; Autosomal dominant inheritance; Autosomal recessive inheritance; Axillary pterygia; Bruising susceptibility; Carious teeth; Congenital onset; Congenital pyloric atresia; Death in infancy; Deeply set eye; Dehydration; Dermal atrophy; Difficulty climbing stairs; Dysphagia; Dysphasia; Echolalia; Ectropion; Elevated maternal serum alpha-fetoprotein; Elevated serum creatine phosphokinase; Esophageal atresia; Failure to thrive; Flexion contracture; Fragile skin; Generalized muscle weakness; Glomerulosclerosis; Gowers sign; Hydronephrosis; Hyperconvex fingernails; Hypoplasia of dental enamel; Hypoplastic fingernail; Increased connective tissue; Intractable diarrhea; Junctional split; Keratitis; Limitation of joint mobility; Lumbar hyperlordosis; Microtia; Milia; Motor delay; Muscle flaccidity; Muscular dystrophy; Mutism; Myopathy; Nail dysplasia; Nail dystrophy; Neonatal respiratory distress; Oculomotor nerve palsy; Onychogryposis of toenails; Ophthalmoplegia; Oral mucosal blisters; Palmoplantar hyperkeratosis; Papule; Plantar hyperkeratosis; Polyhydramnios; Premature birth; Ptosis; Punctate keratitis; Rapidly progressive; Renal dysplasia; Scarring alopecia of scalp; Sepsis; Short stature; Skeletal muscle atrophy; Skin erosion; Skin fragility with non-scarring blistering; Skin vesicle; Thick nail; Underdeveloped nasal alae; Ureterocele; Urethral stricture
PNPLA211p15.5100%gene with protein product609059Adult onset; Autosomal recessive inheritance; Difficulty running; Difficulty walking; Easy fatigability; Elevated hepatic transaminases; Elevated serum creatine phosphokinase; Exercise intolerance; Fasciculations; Generalized hypotonia; Gowers sign; Hepatic steatosis; Hepatomegaly; Increased muscle lipid content; Myalgia; Myopathy; Proximal muscle weakness; Slow progression; Variable expressivityPalmoplantar keratoderma plus congenital ichthyosis; Rhabdomyolysis
POMGNT11p34.198.2%gene with protein product606822MEBAbnormal aldolase level; Abnormal electroretinogram; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of retinal pigmentation; Abnormality of the retinal vasculature; Abnormality of the testis; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anophthalmia; Anteverted nares; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atypical scarring of skin; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cognitive impairment; Coloboma; Conductive hearing impairment; Congenital muscular dystrophy; Congenital myopia; Congenital onset; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Decreased light- and dark-adapted electroretinogram amplitude; Difficulty climbing stairs; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged flash visual evoked potentials; Everted lower lip vermilion; Fatigue; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Gowers sign; Heterogeneous; Hydrocephalus; Hyperinsulinemia; Hyperlordosis; Hypertonia; Hypogonadism; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the pons; Hypoplasia of the retina; Hyporeflexia; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Keratoconus; Lissencephaly; Macrocephaly; Macrogyria; Malar flattening; Megalocornea; Metatarsus valgus; Microcephaly; Micrognathia; Microphthalmia; Midface retrusion; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myoclonus; Myopathy; Myopia; Neurological speech impairment; Nyctalopia; Nystagmus; Obesity; Opacification of the corneal stroma; Ophthalmoplegia; Optic atrophy; Pachygyria; Pallor; Phenotypic variability; Photophobia; Polymicrogyria; Progressive; Progressive night blindness; Reduced visual acuity; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short nasal bridge; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Spasticity; Specific learning disability; Strabismus; Type II lissencephaly; Uncontrolled eye movements; Undetectable electroretinogram; Ventriculomegaly; Visual impairment; Wide nasal bridgeMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT19q34.1399.8%gene with protein product607423Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Absent speech; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar dysplasia; Cerebellar hypoplasia; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; Difficulty climbing stairs; Difficulty walking; Easy fatigability; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Enlarged cisterna magna; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Glaucoma; Global developmental delay; Heterogeneous; Hydrocephalus; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Inability to walk; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Limb-girdle muscle weakness; Lissencephaly; Lumbar hyperlordosis; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Renal dysplasia; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Slow progression; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
POMT214q24.398.02%gene with protein product607439Abnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of the voice; Absent septum pellucidum; Agenesis of corpus callosum; Anal atresia; Anophthalmia; Aplasia/Hypoplasia involving the skeletal musculature; Areflexia; Atresia of the external auditory canal; Autosomal recessive inheritance; Blindness; Buphthalmos; Cataract; Cerebellar cyst; Cerebellar dysplasia; Cerebellar hypoplasia; Cerebral cortical atrophy; Chorioretinal dysplasia; Cleft palate; Cleft upper lip; Cognitive impairment; Coloboma; Congenital contracture; Congenital muscular dystrophy; Corneal opacity; Cryptorchidism; Dandy-Walker malformation; EEG abnormality; Elevated serum creatine phosphokinase; EMG abnormality; Excessive daytime sleepiness; Facial palsy; Flexion contracture; Gait disturbance; Generalized hypotonia; Generalized muscle weakness; Glaucoma; Global developmental delay; Heterogeneous; Hip dislocation; Hydrocephalus; Hyperlordosis; Hypermetropia; Hypertonia; Hypoplasia of penis; Hypoplasia of the brainstem; Hypoplasia of the corpus callosum; Hypoplastic male external genitalia; Hyporeflexia; Infantile onset; Intellectual disability; Intellectual disability, profound; Intellectual disability, severe; Lissencephaly; Macrocephaly; Macroglossia; Macrogyria; Megalocornea; Meningoencephalocele; Metatarsus valgus; Microcephaly; Micropenis; Microphthalmia; Microtia; Motor delay; Muscle weakness; Muscular dystrophy; Muscular hypotonia; Myopathy; Myopia; Neurological speech impairment; Occipital encephalocele; Open mouth; Optic atrophy; Optic nerve hypoplasia; Pachygyria; Peters anomaly; Phenotypic variability; Polymicrogyria; Posterior fossa cyst; Proximal muscle weakness; Renal dysplasia; Respiratory insufficiency; Retinal atrophy; Retinal detachment; Retinal dysplasia; Retinal dystrophy; Scoliosis; Seizures; Severe muscular hypotonia; Skeletal muscle atrophy; Skeletal muscle hypertrophy; Specific learning disability; Spinal rigidity; Strabismus; Thick cerebral cortex; Type II lissencephaly; Variable expressivity; Ventriculomegaly; Visual impairmentMuscular dystropy-dystroglycanopathy (Walker-Warburg); Rhabdomyolysis
PTEN10q23.3199.95%gene with protein productPromoter/regulatory variants are not captured by XomeDxSlice. 601728BZS, MHAMAbnormal form of the vertebral bodies; Abnormal heart morphology; Abnormal lung lobation; Abnormal pupil morphology; Abnormal subcutaneous fat tissue distribution; Abnormal vertebral morphology; Abnormality of metabolism/homeostasis; Abnormality of the eye; Abnormality of the fallopian tube; Abnormality of the large intestine; Abnormality of the parathyroid gland; Abnormality of the penis; Abnormality of the vasculature; Abnormally prominent line of Schwalbe; Absent thumb; Acanthosis nigricans; Acrokeratosis; Adenoma sebaceum; Adult onset; Amblyopia; Anal atresia; Angioid streaks of the fundus; Angiokeratoma; Aqueductal stenosis; Arteriovenous malformation; Asymmetry of the thorax; Ataxia; Atypical nevi in non-sun exposed areas; Atypical nevus; Autism; Autosomal dominant inheritance; Autosomal recessive inheritance; Biparietal narrowing; Birth length greater than 97th percentile; Breast carcinoma; Broad forehead; Bronchogenic cyst; Cachexia; Cafe-au-lait spot; Calvarial hyperostosis; Capillary hemangiomas; Cataract; Cavernous hemangioma; Cognitive impairment; Colonic diverticula; Colorectal polyposis; Communicating hydrocephalus; Conjunctival hamartoma; Cranial nerve paralysis; Cutaneous melanoma; Decreased muscle mass; Delayed gross motor development; Delayed speech and language development; Depressed nasal bridge; Disproportionate tall stature; Dolichocephaly; Downslanted palpebral fissures; Dysplastic gangliocytoma of the cerebellum; Endometrial carcinoma; Enlarged cerebellum; Epibulbar dermoid; Epidermal nevus; Excessive wrinkled skin; Exostoses; Fibroadenoma of the breast; Finger syndactyly; Follicular thyroid carcinoma; Frontal bossing; Furrowed tongue; Generalized hyperkeratosis; Generalized hypotonia; Genu recurvatum; Global developmental delay; Goiter; Gynecomastia; Hamartomatous polyposis; Hand polydactyly; Hashimoto thyroiditis; Headache; Hearing impairment; Hemangioma; Hematochezia; Heterochromia iridis; High palate; Hydrocele testis; Hydrocephalus; Hyperostosis; Hypertelorism; Hyperthyroidism; Hypoglycemia; Hypoplasia of the maxilla; Hypothyroidism; Increased intracranial pressure; Intellectual disability; Intellectual disability, mild; Intention tremor; Intestinal polyposis; Intraocular melanoma; Intussusception; Irregular hyperpigmentation; Joint hypermobility; Juvenile onset; Kyphosis; Lipoma; Long penis; Long philtrum; Lower limb asymmetry; Lymphangioma; Lymphedema; Macrocephaly; Macrodactyly; Macroglossia; Macrotia; Macule; Mandibular prognathia; Melanocytic nevus; Meningioma; Micrognathia; Mucosal telangiectasiae; Multiple cafe-au-lait spots; Multiple lipomas; Myopathy; Myopia; Narrow mouth; Nausea and vomiting; Neoplasm of the breast; Neoplasm of the thyroid gland; Nevus; Non-medullary thyroid carcinoma; Numerous nevi; Obesity; Open bite; Ovarian carcinoma; Ovarian cyst; Ovarian neoplasm; Palmoplantar hyperkeratosis; Palmoplantar keratoderma; Papilloma; Papule; Pectus excavatum; Polymicrogyria; Postnatal growth retardation; Postnatal macrocephaly; Primary peritoneal carcinoma; Progressive macrocephaly; Pseudopapilledema; Pulmonary embolism; Radial club hand; Reduced bone mineral density; Renal hypoplasia; Respiratory failure; Retinal detachment; Round face; Scoliosis; Seizures; Shagreen patch; Short nose; Short stature; Skeletal dysplasia; Skin tags; Squamous cell carcinoma; Stillbirth; Strabismus; Subcutaneous hemorrhage; Subcutaneous lipoma; Subcutaneous nodule; Supernumerary nipple; Thick corpus callosum; Thrombophlebitis; Thyroid adenoma; Thyroiditis; Transitional cell carcinoma of the bladder; Trichilemmoma; Upper limb asymmetry; Varicocele; Vascular skin abnormality; Venous insufficiency; Visceral angiomatosisInflammatory Bowel Disease ; Obesity; VACTERL Association
PUS112q24.3399.99%gene with protein product608109Anemia; Autosomal recessive inheritance; Cytochrome C oxidase-negative muscle fibers; Delayed puberty; Distichiasis; EMG abnormality; Erythroid hyperplasia; Exercise intolerance; Failure to thrive; Generalized limb muscle atrophy; Glaucoma; High palate; Hypochromic anemia; Increased serum ferritin; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Microcytic anemia; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Pallor; Progressive muscle weakness; Scoliosis; Short nose; Sideroblastic anemiaAplastic Anemia ; Bone Marrow Failure Syndromes
PYGM11q13.199.97%gene with protein product608455Adult onset; Autosomal recessive inheritance; Elevated serum creatine phosphokinase; Exercise-induced muscle cramps; Exercise-induced myalgia; Muscle weakness; Myoglobinuria; Myopathy; RhabdomyolysisRhabdomyolysis
RET10q11.21100%gene with protein product164761HSCR1, MEN2A, MTC1, MEN2BAbdominal pain; Abnormal intestine morphology; Abnormality of cardiovascular system morphology; Abnormality of temperature regulation; Abnormality of the cardiovascular system; Abnormality of the foot; Abnormality of the integument; Abnormality of the mouth; Abnormality of the sacrum; Abnormality of the skin; Adrenal pheochromocytoma; Aganglionic megacolon; Autonomic dysregulation; Autosomal dominant inheritance; Autosomal recessive inheritance; Bicornuate uterus; Breathing dysregulation; Cafe-au-lait spot; Central hypoventilation; Central sleep apnea; Cerebral hemorrhage; Chest pain; Colonic diverticula; Congenital cataract; Congenital onset; Congestive heart failure; Constipation; Death in infancy; Depressed nasal ridge; Diarrhea; Disproportionate tall stature; Downslanted palpebral fissures; Dysautonomia; Dysphonia; Elevated calcitonin; Elevated urinary dopamine; Elevated urinary epinephrine; Elevated urinary norepinephrine; Epicanthus; Episodic abdominal pain; Episodic hyperhidrosis; Episodic hypertension; Episodic paroxysmal anxiety; Extraadrenal pheochromocytoma; Failure to thrive; Failure to thrive in infancy; Fatigue; Feeding difficulties; Fetal polyuria; Flushing; Ganglioneuroblastoma; Ganglioneuroma; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Glomerulosclerosis; Hemangioma; High, narrow palate; Hypercalcemia; Hyperhidrosis; Hyperlordosis; Hyperparathyroidism; Hypertelorism; Hypertension; Hypertensive retinopathy; Increased circulating cortisol level; Intellectual disability; Intestinal obstruction; Joint laxity; Kyphosis; Low-set ears; Medullary thyroid carcinoma; Muscular hypotonia; Myopathy; Nausea; Nausea and vomiting; Neoplasm; Nodular goiter; Nonketotic hypoglycemia; Oligohydramnios; Palpitations; Paraganglioma of head and neck; Parathyroid adenoma; Parathyroid hyperplasia; Paroxysmal vertigo; Pectus excavatum; Pes cavus; Pheochromocytoma; Positive regitine blocking test; Posteriorly rotated ears; Potter facies; Primary amenorrhea; Proteinuria; Proximal femoral epiphysiolysis; Pulmonary hypoplasia; Pulsatile tinnitus; Recurrent paroxysmal headache; Renal agenesis; Renal artery stenosis; Renal dysplasia; Retrognathia; Scoliosis; Seizures; Sinus tachycardia; Small for gestational age; Strabismus; Tachycardia; Talipes equinovarus; Thick eyebrow; Thick lower lip vermilion; Tracheoesophageal fistula; Urogenital fistula; Vaginal atresia; Weight lossCongenital Kidney and Urinary Tract (CKUT) Anomalies; Inflammatory Bowel Disease
RMND16q25.199.93%gene with protein product614917C6orf96Areflexia; Autosomal recessive inheritance; Cerebral cortical atrophy; CNS hypomyelination; Congenital onset; Death in infancy; Decreased liver function; Delayed myelination; Feeding difficulties; Generalized hypotonia; Global developmental delay; Hearing impairment; Hepatic steatosis; Hypoplasia of the corpus callosum; Hyporeflexia; Increased CSF lactate; Increased serum lactate; Lactic acidosis; Lethargy; Myopathy; Pachygyria; Renal cyst; Renal dysplasia; Renal hypoplasia; Renal insufficiency; Renal tubular acidosis; Seizures; Severe muscular hypotonia; Variable expressivity
RNR113p12 not onRNA, clusterXomeDxSlice is not appropriate.180450Abnormality of movement; Ataxia; Cognitive impairment; EMG abnormality; Generalized myoclonic seizures; Multiple lipomas; Myopathy; Optic atrophy; Ragged-red muscle fibers; Sensorineural hearing impairment; Short stature
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
SCN4A17q23.3100%gene with protein product603967HYKPPApneic episodes in infancy; Autosomal dominant inheritance; Autosomal recessive inheritance; Cerebral palsy; Chest pain; Dysphagia; Easy fatigability; Elevated serum creatine phosphokinase; EMG abnormality; Episodic flaccid weakness; Episodic hypokalemia; Exercise-induced muscle fatigue; External ophthalmoplegia; Fasciculations; Fatigable weakness; Feeding difficulties; Gait disturbance; Handgrip myotonia; Hyperkalemia; Hypertonia; Hypokalemia; Incomplete penetrance; Increased intramyocellular lipid droplets; Infantile onset; Inspiratory stridor; Laryngospasm; Mildly elevated creatine phosphokinase; Motor delay; Muscle cramps; Muscle stiffness; Muscle weakness; Myalgia; Myopathy; Myotonia; Paradoxical myotonia; Percussion myotonia; Periodic hyperkalemic paralysis; Periodic hypokalemic paresis; Periodic paralysis; Phenotypic variability; Postprandial hyperglycemia; Ptosis; Reduced tendon reflexes; Skeletal muscle hypertrophy; Stridor; Variable expressivity
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
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
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
SIL15q31.2100%gene with protein product608005MSSAbnormal aldolase level; Abnormal lactate dehydrogenase activity; Abnormal levels of creatine kinase in blood; Abnormality of finger; Abnormality of the cerebellar vermis; Abnormality of the metacarpal bones; Aplasia/Hypoplasia involving the skeletal musculature; Ataxia; Autosomal recessive inheritance; Avascular necrosis of the capital femoral epiphysis; Brachydactyly; Cataract; Centrally nucleated skeletal muscle fibers; Cerebellar cortical atrophy; Cerebellar hypoplasia; Congenital cataract; Coxa valga; Cubitus valgus; Dysarthria; Dyskinesia; Dysphonia; Elevated serum creatine phosphokinase; External genital hypoplasia; Failure to thrive; Flexion contracture; Gait ataxia; Generalized hypotonia; Global developmental delay; Hip dislocation; Hip dysplasia; Hypergonadotropic hypogonadism; Hypogonadism; Infantile onset; Intellectual disability; Kyphosis; Limb ataxia; Metatarsus valgus; Microcephaly; Muscle flaccidity; Muscle stiffness; Muscular dystrophy; Muscular hypotonia; Myopathy; Nystagmus; Pectus carinatum; Pes planus; Progressive muscle weakness; Rigidity; Scoliosis; Severe short stature; Short metacarpal; Short metatarsal; Short palm; Short stature; Skeletal muscle atrophy; Spasticity; Specific learning disability; StrabismusRhabdomyolysis
SLC22A55q31.1100%gene with protein product603377CDSPAcute encephalopathy; Autosomal recessive inheritance; Cardiomegaly; Clumsiness; Coma; Confusion; Congestive heart failure; Decreased carnitine level in liver; Decreased plasma carnitine; Elevated hepatic transaminases; Encephalopathy; Endocardial fibroelastosis; Excessive daytime somnolence; Failure to thrive; Generalized hypotonia; Generalized tonic-clonic seizures with focal onset; Hepatic steatosis; Hepatomegaly; Hyperammonemia; Hypertrophic cardiomyopathy; Impaired gluconeogenesis; Lethargy; Muscle weakness; Myopathy; Neck muscle weakness; Recurrent hypoglycemia; Reduced muscle carnitine level; VomitingRhabdomyolysis
SLC25A312q23.1100%gene with protein product600370PHCAbnormal mitochondrial shape; Abnormality of the mitochondrion; Autosomal recessive inheritance; Cyanosis; Failure to thrive; Hypertrophic cardiomyopathy; Increased serum lactate; Lactic acidosis; Low-output congestive heart failure; Metabolic acidosis; Muscular hypotonia; Myopathy; Respiratory insufficiencyAplastic Anemia ; Bone Marrow Failure Syndromes
SLC25A44q35.199.97%gene with protein product103220PEO3, PEO2, ANT1Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Cataract; Congenital onset; Cytochrome C oxidase-negative muscle fibers; EMG: myopathic abnormalities; Exercise intolerance; Facial palsy; Generalized hypotonia; Generalized muscle weakness; Heterogeneous; Hypertrophic cardiomyopathy; Hyporeflexia; Lactic acidosis; Multiple mitochondrial DNA deletions; Myalgia; Myopathy; Myopia; Nystagmus; Progressive; Progressive external ophthalmoplegia; Ptosis; Ragged-red muscle fibers; Respiratory insufficiency due to muscle weakness; Slow progression; Strabismus; Subsarcolemmal accumulations of abnormally shaped mitochondria
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
STIM111p15.4100%gene with protein product605921Abnormal thrombocyte morphology; Abnormality of coagulation; Abnormality of the musculature; Adult onset; Anemia; Areflexia of lower limbs; Asplenia; Autoimmune hemolytic anemia; Autosomal dominant inheritance; Autosomal recessive inheritance; Centrally nucleated skeletal muscle fibers; Deeply set eye; Difficulty running; Easy fatigability; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Episodic fever; Exercise-induced myalgia; Fatiguable weakness of proximal limb muscles; Frequent falls; High forehead; Hypohidrosis; Hypoplasia of the iris; Hyporeflexia of lower limbs; Ichthyosis; Immunodeficiency; Increased variability in muscle fiber diameter; Lymphadenopathy; Miosis; Muscle cramps; Muscle fiber tubular inclusions; Muscle stiffness; Muscular hypotonia; Myalgia; Myopathy; Nail dysplasia; Neurological speech impairment; Proximal amyotrophy; Proximal muscle weakness; Purpura; Recurrent bacterial infections; Short stature; Slow progression; Thrombocytopenia; Type 2 muscle fiber atrophy; Variable expressivity; Weakness of the intrinsic hand musclesAutoimmune Disorders ; Inflammatory Bowel Disease ; Palmoplantar keratoderma plus congenital ichthyosis
TIA12p13.3100%gene with protein product603518Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Distal amyotrophy; Distal muscle weakness; Mildly elevated creatine phosphokinase; Myopathy; Rimmed vacuoles; Slow progression; Steppage gait
TNNT119q13.499.77%gene with protein product191041Abnormality of the rib cage; Autosomal recessive inheritance; Decreased hip abduction; Delayed gross motor development; Hip contracture; Infantile onset; Myopathy; Nemaline bodies; Pectus carinatum; Progressive muscle weakness; Proximal amyotrophy; Respiratory insufficiency; Rigidity; Shoulder flexion contracture; Tremor; Type 1 muscle fiber predominanceRhabdomyolysis
TPI112p13.31100%gene with protein product190450Abnormality of immune system physiology; Autosomal recessive inheritance; Central nervous system degeneration; Cholecystitis; Cholelithiasis; Chronic hemolytic anemia; Congestive heart failure; Diaphragmatic paralysis; Dystonia; Generalized hypotonia; Global developmental delay; Hemolytic anemia; Hyporeflexia; Jaundice; Kyphosis; Muscular hypotonia; Myopathy; Normochromic anemia; Normocytic anemia; Peripheral neuropathy; Progressive muscle weakness; Respiratory insufficiency due to muscle weakness; Skeletal muscle atrophy; Spasticity; Splenomegaly; Tremor; Unsteady gaitHemolytic Anemia
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
TRIM329q33.1100%gene with protein product602290LGMD2HAbnormal electroretinogram; Abnormality of the kidney; Areflexia; Autosomal recessive inheritance; Calf muscle pseudohypertrophy; Centrally nucleated skeletal muscle fibers; Elevated serum creatine phosphokinase; EMG abnormality; EMG: myopathic abnormalities; Exercise-induced myalgia; Facial palsy; Gowers sign; Hypertension; Hypogonadism; Hypoplasia of penis; Hypoplasia of the ovary; Hyporeflexia; Increased variability in muscle fiber diameter; Intellectual disability; Mask-like facies; Multicystic kidney dysplasia; Muscular dystrophy; Myopathy; Neck flexor weakness; Nystagmus; Obesity; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Phenotypic variability; Pigmentary retinopathy; Polydactyly; Postaxial hand polydactyly; Proximal muscle weakness in lower limbs; Quadriceps muscle weakness; Retinopathy; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Slow progression; Tall stature; Waddling gaitBardet-Biedl Syndrome ; Disorders of Sex Development; Heterotaxy ; Obesity; Rhabdomyolysis
TTN2q31.299.92%gene with protein product188840CMD1GAdult onset; Arrhythmia; Autosomal dominant inheritance; Autosomal recessive inheritance; Calf muscle hypertrophy; Centrally nucleated skeletal muscle fibers; Childhood onset; Congenital onset; Diaphragmatic weakness; Dilated cardiomyopathy; Distal muscle weakness; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; Facial palsy; Flexion contracture; Foot dorsiflexor weakness; Generalized muscle weakness; Hypertrophic cardiomyopathy; Incomplete penetrance; Infantile onset; Motor delay; Muscular dystrophy; Myopathy; Neck flexor weakness; Proximal muscle weakness; Ptosis; Rimmed vacuoles; Scoliosis; Slow progression; Steppage gait; Sudden death
UBA1Xp11.3100%gene with protein product314370A1S9T, GXP1, UBE1Abnormality of metabolism/homeostasis; Adducted thumb; Areflexia; Arthrogryposis multiplex congenita; Bilateral single transverse palmar creases; Camptodactyly of finger; Cognitive impairment; Cryptorchidism; Decreased fetal movement; Degeneration of anterior horn cells; Dolichocephaly; Facial palsy; Failure to thrive in infancy; Flexion contracture; Gait disturbance; Hypospadias; Inguinal hernia; Joint stiffness; Kyphosis; Long philtrum; Micrognathia; Micropenis; Multiple joint contractures; Muscular hypotonia; Myopathic facies; Myopathy; Narrow chest; Proximal placement of thumb; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Severe muscular hypotonia; Short neck; Short nose; Spinal muscular atrophy; Tongue fasciculations; Wide nasal bridge; X-linked recessive inheritance
VCP9p13.3100%gene with protein product601023Abnormal brain FDG positron emission tomography; Abnormal nerve conduction velocity; Abnormality of pelvic girdle bone morphology; Abnormality of the cerebral white matter; Absent Achilles reflex; Aggressive behavior; Alexia; Amyotrophic lateral sclerosis; Anxiety; Apraxia; Arthralgia; Autosomal dominant inheritance; Babinski sign; Back pain; Bone pain; Brain atrophy; Collectionism; Depressivity; Difficulty climbing stairs; Disinhibition; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Dyscalculia; Dysgraphia; Dyslexia; Dysphasia; Dyspnea; Dystonia; Echolalia; EEG with continuous slow activity; Elevated alkaline phosphatase; Elevated alkaline phosphatase of bone origin; Elevated serum creatine phosphokinase; EMG: myopathic abnormalities; EMG: neuropathic changes; Emotional blunting; Emotional lability; Fasciculations; Fatigable weakness of respiratory muscles; Fatigable weakness of swallowing muscles; Fatigue; Frontal cortical atrophy; Frontotemporal cerebral atrophy; Frontotemporal dementia; Gait disturbance; Gait imbalance; Generalized muscle weakness; Grammar-specific speech disorder; Hammertoe; Hip pain; Hyperlordosis; Hyperorality; Impaired vibration sensation in the lower limbs; Inappropriate behavior; Increased spinal bone density; Increased variability in muscle fiber diameter; Irritability; Lack of insight; Limb fasciculations; Limb muscle weakness; Loss of speech; Lower limb hyperreflexia; Lumbar hyperlordosis; Memory impairment; Muscle cramps; Muscle weakness; Myopathy; Neurodegeneration; Osteolysis; Pain; Paralysis; Pelvic girdle amyotrophy; Pelvic girdle muscle atrophy; Pelvic girdle muscle weakness; Perseveration; Personality changes; Pes cavus; Poor speech; Progressive; Proximal muscle weakness; Recurrent fractures; Respiratory failure; Restlessness; Restrictive behavior; Rimmed vacuoles; Scapular winging; Short stature; Shoulder girdle muscle atrophy; Shoulder girdle muscle weakness; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Spasticity; Spoken Word Recognition Deficit; Stereotypy; Temporal cortical atrophy; Thickened nuchal skin fold; Tongue fasciculations; Ubiquitin-positive cerebral inclusion bodies; Variable expressivity; Waddling gait; Xerostomia
VMA21Xq28100%gene with protein product300913MEAXDifficulty climbing stairs; Difficulty running; Elevated serum creatine phosphokinase; Gowers sign; Incomplete penetrance; Myopathy; Myotonia; Proximal muscle weakness in lower limbs; Skeletal muscle atrophy; Slow progression; X-linked recessive inheritance
VPS13A9q21.299.95%gene with protein product605978CHACAbnormal bleeding; Abnormal urinary color; Abnormality of vision; Acanthocytosis; Aggressive behavior; Anxiety; Areflexia; Ataxia; Attention deficit hyperactivity disorder; Autosomal recessive inheritance; Caudate atrophy; Cerebral cortical atrophy; Chorea; Death in early adulthood; Developmental regression; Difficulty in tongue movements; Disinhibition; Distal upper limb muscle weakness; Drooling; Dysarthria; Dysgraphia; Dysphagia; Dystonia; Elevated serum creatine phosphokinase; EMG abnormality; Fatigue; Gait disturbance; Hyporeflexia; Limb muscle weakness; Memory impairment; Mood changes; Muscle fiber atrophy; Muscular hypotonia; Myopathy; Orofacial dyskinesia; Pallor; Parkinsonism; Peripheral neuropathy; Personality changes; Pes cavus; Progressive; Progressive choreoathetosis; Progressive distal muscular atrophy; Protruding tongue; Psychosis; Seizures; Self-mutilation of tongue and lips due to involuntary movements; Sensory neuropathy; Skeletal muscle atrophy; Tics; Tremor; Ventriculomegaly
XDH2p23.1100%gene with protein product607633Autosomal recessive inheritance; Hydronephrosis; Myopathy; Pyelonephritis; Reduced xanthine dehydrogenase activity; Xanthine nephrolithiasis; Xanthinuria
YARS212p11.21100%gene with protein product610957Anemia; Autosomal recessive inheritance; Delayed puberty; Distichiasis; Dysphagia; EMG abnormality; Exercise intolerance; Failure to thrive; Generalized amyotrophy; Generalized limb muscle atrophy; Glaucoma; Growth delay; High palate; Increased serum lactate; Intellectual disability; Kyphosis; Lactic acidosis; Long philtrum; Microcephaly; Micrognathia; Mitochondrial myopathy; Muscular hypotonia; Myopathy; Nystagmus; Phenotypic variability; Progressive; Progressive muscle weakness; Ptosis; Respiratory insufficiency due to muscle weakness; Scoliosis; Short nose; Sideroblastic anemia; StrabismusAplastic Anemia ; Bone Marrow Failure Syndromes
ZBTB203q13.31100%gene with protein product606025ZNF288Abnormality of the palate; Absent axillary hair; Absent facial hair; Anemia; Anonychia; Autosomal dominant inheritance; Basilar impression; Bilateral cryptorchidism; Bone cyst; Brachycephaly; Broad forehead; Calcification of the auricular cartilage; Cataract; Conductive hearing impairment; Deeply set eye; Developmental regression; Distal amyotrophy; Downslanted palpebral fissures; Downturned corners of mouth; Gait disturbance; Generalized hypotonia; Generalized osteoporosis; Genu valgum; Gynecomastia; Hearing impairment; Hip contracture; Hydrocephalus; Hypogonadism; Hypoplasia of the corpus callosum; Hypoplasia of the maxilla; Increased size of the mandible; Intellectual disability; Irregular vertebral endplates; Knee flexion contracture; Kyphosis; Macrocephaly; Macrotia; Malar flattening; Metatarsus adductus; Midface retrusion; Myopathy; Narrow chest; Narrow iliac wings; Narrow mouth; Neurodegeneration; Osteolysis; Pectus excavatum; Pes cavus; Plagiocephaly; Posterior polar cataract; Posterior scalloping of vertebral bodies; Ptosis; Scoliosis; Seizures; Short distal phalanx of finger; Short stature; Sparse scalp hair; Sporadic; Superiorly displaced ears; Synophrys; Thick lower lip vermilion; Truncal obesity


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