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Phenotypes
Spastic paraplegia

Select all: Gene symbolChrAvg % covered at 10xLocus TypeNoteOMIMPrevious symbol(s)Phenotype(s)Slice(s)
ABCD1Xq28100%gene with protein product300371ALDAbnormality of the cerebral white matter; Abnormality of the skeletal system; Attention deficit hyperactivity disorder; Blindness; Bowel incontinence; Bulbar palsy; Dementia; Elevated long chain fatty acids; Hearing impairment; Hyperpigmentation of the skin; Hypogonadism; Impotence; Incoordination; Limb ataxia; Loss of speech; Neurodegeneration; Paraparesis; Polyneuropathy; Primary adrenal insufficiency; Progressive; Psychosis; Seizures; Slurred speech; Spastic paraplegia; Truncal ataxia; Urinary bladder sphincter dysfunction; Urinary incontinence; Visual loss; X-linked recessive inheritance
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
ALDH18A110q24.1100%gene with protein product138250GSAS, PYCS, SPG9Abnormal facial shape; Abnormal upper motor neuron morphology; Abnormality of pelvic girdle bone morphology; Adducted thumb; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bowel diverticulosis; Brachycephaly; Brisk reflexes; Broad forehead; Carpal bone hypoplasia; Cataract; Congenital cataract; Congenital hip dislocation; Corneal arcus; Corneal opacity; Cutis laxa; Delayed cranial suture closure; Delayed skeletal maturation; Dysarthria; Dysfunction of lateral corticospinal tracts; Failure to thrive; Feeding difficulties; Frontal bossing; Full cheeks; Gait disturbance; Gastroesophageal reflux; Generalized amyotrophy; Generalized hypotonia; Genetic anticipation; Global developmental delay; Hernia; Hiatus hernia; Hip dislocation; Hyperextensible skin; Hyperreflexia; Hypertelorism; Hypotelorism; Inguinal hernia; Intellectual disability; Intrauterine growth retardation; Joint hyperflexibility; Joint hypermobility; Large fontanelles; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Microcephaly; Motor polyneuropathy; Myopia; Narrow mouth; Narrow nasal ridge; Pectus excavatum; Pes cavus; Premature skin wrinkling; Progressive; Prominent forehead; Prominent superficial blood vessels; Protruding ear; Redundant skin; Scoliosis; Seizures; Severe short stature; Short stature; Skeletal muscle atrophy; Slow progression; Sparse hair; Spastic paraplegia; Specific learning disability; Sporadic; Strabismus; Talipes equinovarus; Thin skin; Triangular face; Umbilical hernia; Urinary retention; Vomiting; Wide cranial sutures; Wormian bones
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
ALS22q33.1100%gene with protein product606352ALS2CR6Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of eye movement; Abnormality of the corticospinal tract; Abnormality of the eye; Abnormality of the face; Achilles tendon contracture; Amyotrophic lateral sclerosis; Anarthria; Autosomal recessive inheritance; Babinski sign; Cerebral cortical atrophy; Chewing difficulties; Childhood onset; Decreased muscle mass; Difficulty in tongue movements; Distal amyotrophy; Drooling; Dysarthria; Dysphagia; EMG abnormality; EMG: chronic denervation signs; Gait disturbance; Gait imbalance; Hand muscle atrophy; Hyperreflexia; Infantile onset; Juvenile onset; Loss of speech; Lower limb spasticity; Motor delay; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Saccadic smooth pursuit; Scoliosis; Slow progression; Slow saccadic eye movements; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Spastic tetraplegia; Spasticity; Spasticity of facial muscles; Spasticity of pharyngeal muscles; Tetraplegia; Upper limb spasticity; Urinary incontinence
AMPD21p13.3100%gene with protein product102771Abnormality of the periventricular white matter; Abnormality of the pinna; Autosomal recessive inheritance; Cerebral cortical atrophy; Clonus; Cortical visual impairment; Decreased body weight; Downslanted palpebral fissures; Facial hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Macroglossia; Microcephaly; Midface retrusion; Muscular hypotonia of the trunk; Narrow forehead; Optic atrophy; Peripheral axonal neuropathy; Progressive microcephaly; Scissor gait; Seizures; Short stature; Short upper lip; Skeletal muscle atrophy; Spastic paraplegia; Spasticity; Ventriculomegaly
AP4B11p13.2100%gene with protein product607245SPG47Abnormality of the periventricular white matter; Acetabular dysplasia; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Coarse facial features; Congenital onset; Delayed speech and language development; Dysarthria; Dystonia; Flexion contracture; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, severe; Microcephaly; Narrow forehead; Neonatal hypotonia; Seizures; Short philtrum; Slow progression; Spastic paraplegia; Ventriculomegaly; Waddling gait; Wide mouth
AP4E115q21.2100%gene with protein product607244Abnormality of the voice; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral cortical atrophy; Coarse facial features; Congenital onset; Decreased muscle mass; Downslanted palpebral fissures; Drooling; Facial hypotonia; Flexion contracture; Global developmental delay; Hyperreflexia; Intellectual disability, severe; Long nose; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Nystagmus; Pointed chin; Prominent antihelix; Seizures; Short philtrum; Short stature; Spastic paraplegia; Spastic tetraplegia; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal bridge
AP4M17q22.199.99%gene with protein product602296Adducted thumb; Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebellar atrophy; Cerebral palsy; Coarse facial features; Congenital onset; Drooling; Gliosis; Global developmental delay; High palate; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability, progressive; Intellectual disability, severe; Mandibular prognathia; Microcephaly; Narrow forehead; Neonatal hypotonia; Pseudobulbar signs; Seizures; Short philtrum; Spastic paraplegia; Spastic tetraplegia; Strabismus; Talipes equinovarus; Ventriculomegaly; Wide mouth; Wide nasal ridge
AP4S114q12100%gene with protein product607243Autosomal recessive inheritance; Babinski sign; Bulbous nose; Cerebral palsy; Coarse facial features; Congenital onset; Facial hypotonia; Flexion contracture; Global developmental delay; High palate; Hyperreflexia; Hypertelorism; Intellectual disability, severe; Loss of ability to walk; Microcephaly; Muscular hypotonia of the trunk; Prominent nose; Short philtrum; Short stature; Spastic paraplegia; Talipes equinovarus; Thick vermilion border; Wide mouth; Wide nasal bridge
AP5Z17p22.1100%gene with protein product613653KIAA0415Abnormality of the cervical spine; Abnormality of the periventricular white matter; Ataxia; Autosomal recessive inheritance; Broad-based gait; Cognitive impairment; Dysmetria; Elevated serum creatine phosphokinase; Global developmental delay; Hyperintensity of cerebral white matter on MRI; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Mental deterioration; Myoclonus; Parkinsonism; Peripheral neuropathy; Progressive; Progressive spastic paraplegia; Retinopathy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence
ARL6IP116p12.3100%gene with protein product607669ARL6IPAbnormality of the Achilles tendon; Abnormality of the knee; Absent Achilles reflex; Autosomal recessive inheritance; Difficulty walking; Hyperactive patellar reflex; Inability to walk; Motor polyneuropathy; Polyneuropathy; Scissor gait; Sensory neuropathy; Spastic paraplegia; Spasticity
ATL114q22.1100%gene with protein product606439SPG3, SPG3AAdult onset; Autoamputation; Autosomal dominant inheritance; Babinski sign; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal lower limb amyotrophy; Distal sensory impairment; Distal sensory loss of all modalities; Heterogeneous; Hyperreflexia; Impaired vibration sensation in the lower limbs; Incomplete penetrance; Insidious onset; Lower limb muscle weakness; Motor delay; Nail dysplasia; Nail dystrophy; Paraplegia; Paresthesia; Peripheral axonal neuropathy; Pes cavus; Progressive; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
ATP13A21p36.13100%gene with protein product610513PARK9Aggressive behavior; Akinesia; Anarthria; Anosmia; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Dementia; Distal sensory impairment; Dysarthria; Gait disturbance; Hallucinations; Hyperreflexia; Hypokinesia; Hyposmia; Mask-like facies; Myoclonus; Nystagmus; Paraparesis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Postural instability; Psychotic episodes; Rapidly progressive; Rigidity; Slow saccadic eye movements; Spastic paraplegia; Spastic tetraplegia; Supranuclear gaze palsy; Torticollis; Tremor
ATP13A21p36.13100%gene with protein product610513PARK9Aggressive behavior; Akinesia; Anarthria; Anosmia; Ataxia; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Dementia; Distal sensory impairment; Dysarthria; Gait disturbance; Hallucinations; Hyperreflexia; Hypokinesia; Hyposmia; Mask-like facies; Myoclonus; Nystagmus; Paraparesis; Parkinsonism; Parkinsonism with favorable response to dopaminergic medication; Postural instability; Psychotic episodes; Rapidly progressive; Rigidity; Slow saccadic eye movements; Spastic paraplegia; Spastic tetraplegia; Supranuclear gaze palsy; Torticollis; Tremor
BSCL211q12.3100%gene with protein product606158GNG3LG, SPG17Abnormal pyramidal signs; Abnormality of skin pigmentation; Acanthosis nigricans; Accelerated skeletal maturation; Acute pancreatitis; Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Bone cyst; Brisk reflexes; Broad foot; Cerebral atrophy; Cirrhosis; Clitoral hypertrophy; Coarse facial features; Cold-induced hand cramps; Congenital onset; Cystic angiomatosis of bone; Decreased fertility; Decreased fertility in females; Decreased serum leptin; Delayed speech and language development; Developmental regression; Diabetes mellitus; Distal amyotrophy; Distal muscle weakness; Dystonia; Elevated hepatic transaminases; Encephalopathy; First dorsal interossei muscle atrophy; First dorsal interossei muscle weakness; Generalized hirsutism; Generalized lipodystrophy; Generalized muscular appearance from birth; Growth hormone excess; Hepatic failure; Hepatic steatosis; Hepatomegaly; Heterogeneous; High pitched voice; Hirsutism; Hyperactivity; Hyperhidrosis; Hyperinsulinemia; Hyperreflexia; Hypertriglyceridemia; Hypertrophic cardiomyopathy; Impaired vibration sensation in the lower limbs; Insulin resistance; Insulin-resistant diabetes mellitus at puberty; Intellectual disability; Intellectual disability, mild; Labial hypertrophy; Large hands; Lipoatrophy; Lipodystrophy; Long foot; Loss of speech; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Mandibular prognathia; Mental deterioration; Myoclonus; Nephrolithiasis; Neuronal loss in central nervous system; Onset; Pes cavus; Polycystic ovaries; Polyphagia; Poor motor coordination; Precocious puberty; Progressive; Progressive encephalopathy; Progressive psychomotor deterioration; Prominent supraorbital ridges; Prominent umbilicus; Reduced intraabdominal adipose tissue; Reduced intrathoracic adipose tissue; Reduced subcutaneous adipose tissue; Seizures; Skeletal muscle hypertrophy; Sleep disturbance; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Splenomegaly; Tall stature; Tetraparesis; Thenar muscle atrophy; Thenar muscle weakness; Tremor; Triangular face; Umbilical hernia; Upper limb muscle weakness
C19ORF1219q1294.81%gene with protein product614297SPG43Abnormal lower motor neuron morphology; Ankle contracture; Ataxia; Autosomal recessive inheritance; Babinski sign; Delayed speech and language development; Dementia; Depressivity; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Elevated serum creatine phosphokinase; Emotional lability; Gait disturbance; Hyperreflexia; Hyporeflexia; Impulsivity; Knee flexion contracture; Lewy bodies; Neurodegeneration; Optic atrophy; Oromandibular dystonia; Parkinsonism; Pes cavus; Phenotypic variability; Progressive; Progressive visual loss; Scapular winging; Slow progression; Spastic paraplegia; Spasticity; Tremor; Variable expressivity
CACNA1D3p21.1100%gene with protein product114206CCHL1A2, CACNL1A2Abnormal circulating renin; Athetosis; Autosomal dominant inheritance; Autosomal recessive inheritance; Bradycardia; Caesarian section; Cerebral palsy; Cortical visual impairment; Decreased circulating renin level; EMG: impaired neuromuscular transmission; Focal myoclonic seizures; Focal seizures with impairment of consciousness or awareness; Generalized tonic-clonic seizures; Global developmental delay; Hearing impairment; Hyperaldosteronism; Hypertension; Hypokalemia; Intellectual disability, severe; Left ventricular hypertrophy; Metabolic alkalosis; Polydipsia; Pulmonary arterial hypertension; Second degree atrioventricular block; Spastic paraplegia; Ventricular hypertrophy
CAPN111q13.1100%gene with protein product114220Autosomal recessive inheritance; Pes valgus; Spastic paraplegiaPalmoplantar keratoderma plus congenital ichthyosis
CCT55p15.2100%gene with protein product610150Abnormality of peripheral nerve conduction; Abnormality of the foot; Acral ulceration and osteomyelitis leading to autoamputation of digits; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Clonus; Decreased circulating low-density lipoprotein levels; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Distal sensory loss of all modalities; Dysautonomia; Gait disturbance; Hyperreflexia; Hypocholesterolemia; Impaired pain sensation; Infantile onset; Juvenile onset; Peripheral axonal neuropathy; Skin ulcer; Spastic gait; Spastic paraplegia
CCT55p15.2100%gene with protein product610150Abnormality of peripheral nerve conduction; Abnormality of the foot; Acral ulceration and osteomyelitis leading to autoamputation of digits; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Clonus; Decreased circulating low-density lipoprotein levels; Decreased motor nerve conduction velocity; Distal amyotrophy; Distal sensory impairment; Distal sensory loss of all modalities; Dysautonomia; Gait disturbance; Hyperreflexia; Hypocholesterolemia; Impaired pain sensation; Infantile onset; Juvenile onset; Peripheral axonal neuropathy; Skin ulcer; Spastic gait; Spastic paraplegia
CPT1C19q13.33100%gene with protein product608846Adult onset; Autosomal dominant inheritance; Babinski sign; Difficulty walking; Hyperreflexia; Proximal muscle weakness; Skeletal muscle atrophy; Slow progression; Spastic paraplegia
CYP2U14q25100%gene with protein product610670Autosomal recessive inheritance; Babinski sign; Global developmental delay; Lower limb hyperreflexia; Motor delay; Spastic gait; Spastic paraplegia; Toe walking; Unsteady gait; Variable expressivity
CYP7B18q12.3100%gene with protein product603711SPG5AAbnormality of coagulation; Abnormality of the cerebral white matter; Abnormality of the coagulation cascade; Abnormality of the urinary system; Acholic stools; Ankle clonus; Autosomal recessive inheritance; Babinski sign; Biliary tract abnormality; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Dysarthria; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Hepatic failure; Hepatitis; Hepatomegaly; Hyperreflexia; Impaired distal proprioception; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Intrahepatic cholestasis; Jaundice; Lower limb amyotrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal cholestatic liver disease; Neonatal onset; Optic atrophy; Paraplegia; Pes cavus; Progressive; Pruritus; Spastic gait; Spastic paraplegia; Splenomegaly; Steatorrhea; Urinary incontinence
CYP7B18q12.3100%gene with protein product603711SPG5AAbnormality of coagulation; Abnormality of the cerebral white matter; Abnormality of the coagulation cascade; Abnormality of the urinary system; Acholic stools; Ankle clonus; Autosomal recessive inheritance; Babinski sign; Biliary tract abnormality; Cirrhosis; Congenital hepatic fibrosis; Diarrhea; Dysarthria; Elevated alkaline phosphatase; Elevated hepatic transaminases; Failure to thrive; Gastrointestinal hemorrhage; Hepatic failure; Hepatitis; Hepatomegaly; Hyperreflexia; Impaired distal proprioception; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Intrahepatic cholestasis; Jaundice; Lower limb amyotrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal cholestatic liver disease; Neonatal onset; Optic atrophy; Paraplegia; Pes cavus; Progressive; Pruritus; Spastic gait; Spastic paraplegia; Splenomegaly; Steatorrhea; Urinary incontinence
DDHD114q22.1100%gene with protein product614603SPG28Autosomal recessive inheritance; Babinski sign; Difficulty walking; Distal sensory impairment; Hyperreflexia; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Pes cavus; Scoliosis; Slow progression; Spastic paraplegia
DDHD28p11.2399.94%gene with protein product615003SAMWD1Abnormality of the periventricular white matter; Autosomal recessive inheritance; Babinski sign; Dysarthria; Dysphagia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Progressive; Short stature; Spastic paraplegia; Strabismus; Telecanthus
DSTYK1q32.1100%gene with protein product612666RIPK5Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cognitive impairment; Congenital onset; Hyperpigmentation in sun-exposed areas; Hyperreflexia; Incomplete penetrance; Lower limb muscle weakness; Microcephaly; Micrognathia; Narrow face; Premature graying of body hair; Retrognathia; Spastic paraplegia; Stage 5 chronic kidney disease; Ureteropelvic junction obstruction; Vesicoureteral reflux; VitiligoCongenital Kidney and Urinary Tract (CKUT) Anomalies; Palmoplantar keratoderma plus congenital ichthyosis
ERLIN28p11.23100%gene with protein product611605C8orf2, SPFH2, SPG18Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Absent speech; Autosomal recessive inheritance; Babinski sign; Dysphagia; Gait disturbance; Gait imbalance; High palate; Hyperreflexia; Kyphosis; Loss of speech; Lower limb muscle weakness; Muscle weakness; Pes cavus; Progressive; Pseudobulbar behavioral symptoms; Scoliosis; Skeletal muscle atrophy; Slow progression; Spastic dysarthria; Spastic gait; Spastic paraplegia; Spastic tetraparesis; Strabismus; Upper limb spasticity
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FA2H16q23.1100%gene with protein product611026FAXDC1, SPG35Abnormality of the periventricular white matter; Ankle clonus; Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Corpus callosum atrophy; Difficulty walking; Dysarthria; Dysdiadochokinesis; Dysmetria; Dysmyelinating leukodystrophy; Dystonia; Foot dorsiflexor weakness; Frequent falls; Generalized dystonia; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb hypertonia; Lower limb spasticity; Mental deterioration; Neurodegeneration; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive; Seizures; Spastic paraparesis; Spastic paraplegia; Spastic tetraparesis; Strabismus; Urinary urgency
FARS26p25.1100%gene with protein product611592FARS1Atrophy/Degeneration affecting the brainstem; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; Death in infancy; EEG abnormality; Feeding difficulties; Generalized hypotonia; Gliosis; Global developmental delay; Growth delay; Hyperreflexia; Increased serum lactate; Lactic acidosis; Lower limb amyotrophy; Microcephaly; Myoclonus; Seizures; Slow progression; Spastic paraplegia; Variable expressivity; Ventriculomegaly
GAN16q23.299.89%gene with protein product605379Abnormal hand morphology; Abnormal pyramidal signs; Abnormality of the Achilles tendon; Abnormality of the cerebellum; Abnormality of the hand; Areflexia; Areflexia of lower limbs; Autosomal recessive inheritance; CNS hypomyelination; Curly hair; Decreased number of peripheral myelinated nerve fibers; Difficulty walking; Diffuse axonal swelling; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Facial palsy; Generalized hypotonia; Hyperreflexia; Hyporeflexia of lower limbs; Intellectual disability; Joint hypermobility; Juvenile onset; Morphological abnormality of the pyramidal tract; Motor axonal neuropathy; Nystagmus; Pes cavus; Pes planus; Phenotypic variability; Pili canaliculi; Proximal muscle weakness; Scoliosis; Sensory axonal neuropathy; Slow progression; Spastic paraplegia; Spasticity; Steppage gait; Talipes equinovarus; Unsteady gait; Woolly hair
GBA29p13.399.99%gene with protein product609471SPG46Ankle clonus; Autosomal recessive inheritance; Babinski sign; Cataract; Cerebellar atrophy; Cerebral atrophy; Dysarthria; Hypoplasia of the corpus callosum; Jerky ocular pursuit movements; Knee clonus; Limb dysmetria; Lower limb muscle weakness; Nystagmus; Pes cavus; Progressive; Slow progression; Spastic gait; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
GBE13p12.299.98%gene with protein product607839Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of metabolism/homeostasis; Abnormality of the cerebral white matter; Adult onset; Arthrogryposis multiplex congenita; Ascites; Autosomal recessive inheritance; Behavioral abnormality; Cardiomyopathy; Cirrhosis; Cognitive impairment; Decreased fetal movement; Distal sensory impairment; Edema; Esophageal varix; Failure to thrive; Gait disturbance; Generalized hypotonia; Hemiparesis; Hepatic failure; Hepatosplenomegaly; Hydrops fetalis; Intellectual disability; Muscle weakness; Neurogenic bladder; Paresthesia; Peripheral axonal neuropathy; Polyhydramnios; Portal hypertension; Reduced tendon reflexes; Skeletal muscle atrophy; Skin ulcer; Slow progression; Spastic paraplegia; Spasticity; Tetraparesis; Tubulointerstitial fibrosis; Urinary bladder sphincter dysfunction; Urinary incontinenceRhabdomyolysis
GJC21q42.1398.69%gene with protein product608803GJA12Ataxia; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cellulitis; Cerebral atrophy; Cerebral hypomyelination; Choreoathetosis; Cognitive impairment; Constipation; Decreased motor nerve conduction velocity; Demyelinating motor neuropathy; Distal sensory impairment; Dysarthria; Dysmetria; Dystonia; Facial palsy; Global developmental delay; Head titubation; Hyperreflexia; Incomplete penetrance; Infantile onset; Intention tremor; Leukodystrophy; Lower limb spasticity; Lymphedema; Motor delay; Muscular hypotonia of the trunk; Myopia; Optic atrophy; Pes cavus; Poor speech; Progressive spasticity; Recurrent skin infections; Rigidity; Rotary nystagmus; Scoliosis; Seizures; Sensorineural hearing impairment; Sensory axonal neuropathy; Slow saccadic eye movements; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity; Urinary incontinence
HSPD12q33.199.98%gene with protein product118190SPG13Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hyperreflexia in upper limbs; Impaired vibration sensation in the lower limbs; Intellectual disability, profound; Leukodystrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal onset; Nystagmus; Postnatal microcephaly; Progressive; Progressive spasticity; Seizures; Spastic gait; Spastic paraplegia; Strabismus; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
HSPD12q33.199.98%gene with protein product118190SPG13Apnea; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Choreoathetosis; Feeding difficulties in infancy; Flexion contracture; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hyperreflexia in upper limbs; Impaired vibration sensation in the lower limbs; Intellectual disability, profound; Leukodystrophy; Lower limb muscle weakness; Lower limb spasticity; Neonatal onset; Nystagmus; Postnatal microcephaly; Progressive; Progressive spasticity; Seizures; Spastic gait; Spastic paraplegia; Strabismus; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
IBA571q42.13100%gene with protein product615316C1orf69Abnormality of mitochondrial metabolism; Arthrogryposis multiplex congenita; Autosomal recessive inheritance; Babinski sign; Cerebral atrophy; Congenital onset; Distal sensory impairment; Encephalopathy; High palate; Hypoplasia of the corpus callosum; Intrauterine growth retardation; Lactic acidosis; Metabolic acidosis; Microcephaly; Optic atrophy; Peripheral axonal neuropathy; Polyhydramnios; Polymicrogyria; Retrognathia; Severe muscular hypotonia; Slow progression; Spastic paraplegia; Visual field defect; Visual impairment; Wide intermamillary distance
KIDINS2202p25.199.99%gene with protein product615759Astigmatism; Autosomal dominant inheritance; Cerebral atrophy; Deeply set eye; Delayed myelination; Delayed speech and language development; Dilation of lateral ventricles; Esotropia; Full cheeks; Global developmental delay; Hypermetropia; Hyperreflexia; Infantile onset; Intellectual disability; Limb hypertonia; Muscular hypotonia of the trunk; Nystagmus; Prominent forehead; Reduced visual acuity; Spastic paraplegiaObesity
KIF1A2q37.3100%gene with protein product601255ATSV, C2orf20, SPG30Abnormal cortical bone morphology; Abnormality of epiphysis morphology; Abnormality of eye movement; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of saccadic eye movements; Abnormality of the ankles; Abnormality of the eye; Abnormality of the hip bone; Abnormality of the knee; Abnormality of the palate; Abnormality of upper lip; Acral ulceration leading to autoamputation of digits; Anhidrosis; Ankle clonus; Anteverted nares; Areflexia; Ataxia; Atrophy/Degeneration affecting the brainstem; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Biparietal narrowing; Cerebellar atrophy; Cerebral cortical atrophy; Decreased nerve conduction velocity; Decreased number of peripheral myelinated nerve fibers; Decreased sensory nerve conduction velocity; Decreased taste sensation; Distal amyotrophy; Distal sensory impairment; Drowsiness; Dysmetria; Dystrophic fingernails; Dystrophic toenail; Edema of the lower limbs; Epicanthus; Episodic hyperhidrosis; External ear malformation; Feeding difficulties; Feeding difficulties in infancy; Foot acroosteolysis; Full cheeks; Gastroesophageal reflux; Generalized hypotonia; Gingival overgrowth; Global developmental delay; Hydrocephalus; Hyperhidrosis; Hyperlordosis; Hyperreflexia; Hyporeflexia; Hypsarrhythmia; Infantile onset; Infantile spasms; Intellectual disability, severe; Leg muscle stiffness; Limitation of joint mobility; Lower limb amyotrophy; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Macrotia; Malar flattening; Microcephaly; Midface retrusion; Open mouth; Optic atrophy; Osteolytic defects of the phalanges of the hand; Painless fractures due to injury; Palpebral edema; Paronychia; Peripheral axonal neuropathy; Peripheral edema; Peripheral neuropathy; Porencephalic cyst; Progressive; Progressive spastic paraplegia; Recurrent respiratory infections; Reduced bone mineral density; Scissor gait; Sensorimotor neuropathy; Severe muscular hypotonia; Short nose; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraplegia; Tapered finger; Unsteady gait; Urinary bladder sphincter dysfunction; Variable expressivity; Ventriculomegaly; Visual loss; Wormian bones
KIF5A12q13.3100%gene with protein product602821SPG10Ankle clonus; Athetosis; Autosomal dominant inheritance; Babinski sign; Chorea; Congenital onset; Cortical visual impairment; Delayed myelination; Developmental stagnation; Distal sensory impairment; Dysphagia; Feeding difficulties; Generalized hypotonia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Knee clonus; Lower limb muscle weakness; Microcephaly; Nystagmus; Pes cavus; Phenotypic variability; Progressive; Progressive leukoencephalopathy; Ptosis; Scoliosis; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
KLC211q13.2100%gene with protein product611729Autosomal recessive inheritance; Distal amyotrophy; Dysarthria; Exaggerated startle response; Flexion contracture; Hyperhidrosis; Hyperreflexia proximally; Hyporeflexia; Kyphosis; Motor axonal neuropathy; Motor delay; Optic atrophy; Optic disc pallor; Pes cavus; Progressive; Scoliosis; Sensory axonal neuropathy; Spastic paraplegia
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
L1CAMXq2899.99%gene with protein product308840HSAS1, SPG1, HSAS, MASA, MIC5, S10Abnormal facial shape; Absent septum pellucidum; Adducted thumb; Aganglionic megacolon; Agenesis of corpus callosum; Aphasia; Aqueductal stenosis; Camptodactyly of finger; Cerebellar hypoplasia; Clinodactyly of the 5th finger; Corticospinal tract hypoplasia; Delayed speech and language development; Flexion contracture of thumb; Gait disturbance; Hand clenching; Hemiplegia/hemiparesis; Hydrocephalus; Hyperlordosis; Hyperreflexia; Increased intracranial pressure; Inferior vermis hypoplasia; Intellectual disability; Intellectual disability, severe; Kyphosis; Macrocephaly; Microcephaly; Muscle weakness; Partial agenesis of the corpus callosum; Pes cavus; Seizures; Short stature; Shuffling gait; Spastic paraplegia; Spasticity; Strabismus; Talipes equinovarus; Ventriculomegaly; X-linked recessive inheritance
LAMB17q31.1100%gene with protein product150240CLMAbnormality of the cerebral white matter; Autosomal recessive inheritance; Cerebellar hypoplasia; Generalized hypotonia; Gray matter heterotopias; Hydrocephalus; Hypoplasia of the brainstem; Intellectual disability; Leukoencephalopathy; Macrocephaly; Muscular hypotonia; Occipital encephalocele; Porencephalic cyst; Progressive; Seizures; Severe global developmental delay; Spastic paraplegia; Type II lissencephaly; Variable expressivity
NIPA115q11.299.93%gene with protein product608145SPG6Autosomal dominant inheritance; Babinski sign; Clonus; Degeneration of the lateral corticospinal tracts; Gait disturbance; Generalized tonic-clonic seizures; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Insidious onset; Limitation of movement at ankles; Limited hip movement; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Pes cavus; Progressive; Seizures; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
NIPA115q11.299.93%gene with protein product608145SPG6Autosomal dominant inheritance; Babinski sign; Clonus; Degeneration of the lateral corticospinal tracts; Gait disturbance; Generalized tonic-clonic seizures; Impaired vibration sensation in the lower limbs; Impaired vibratory sensation; Insidious onset; Limitation of movement at ankles; Limited hip movement; Lower limb hyperreflexia; Lower limb muscle weakness; Lower limb spasticity; Pes cavus; Progressive; Seizures; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
NT5C210q24.32-q2499.99%gene with protein product600417NT5BAnkle contracture; Autosomal recessive inheritance; Babinski sign; Dysplastic corpus callosum; Flexion contracture; Flexion contracture of toe; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Knee flexion contracture; Motor delay; Myopia; Nystagmus; Optic atrophy; Pendular nystagmus; Spastic gait; Spastic paraplegia
NT5C210q24.32-q2499.99%gene with protein product600417NT5BAnkle contracture; Autosomal recessive inheritance; Babinski sign; Dysplastic corpus callosum; Flexion contracture; Flexion contracture of toe; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Intellectual disability; Knee flexion contracture; Motor delay; Myopia; Nystagmus; Optic atrophy; Pendular nystagmus; Spastic gait; Spastic paraplegia
PAX32q36.1100%gene with protein product606597WS1Abnormality of vision; Aganglionic megacolon; Alveolar rhabdomyosarcoma; Aplasia of the vagina; Aplasia/Hypoplasia involving the nose; Atelectasis; Autosomal dominant contiguous gene syndrome; Autosomal dominant inheritance; Autosomal recessive inheritance; Blepharophimosis; Blue irides; Brachydactyly; Camptodactyly of finger; Carpal synostosis; Clinodactyly; Congenital sensorineural hearing impairment; Cutaneous finger syndactyly; Depressed nasal bridge; Depressed nasal ridge; Downslanted palpebral fissures; Flat face; Hearing impairment; Heterochromia iridis; Hypertelorism; Hypopigmentation of the fundus; Hypopigmented skin patches; Hypoplasia of the maxilla; Hypoplastic iris stroma; Intellectual disability; Joint stiffness; Lacrimal duct atresia; Lacrimation abnormality; Malar flattening; Mandibular prognathia; Microcephaly; Narrow face; Narrow mouth; Narrow nasal bridge; Oral cleft; Partial albinism; Premature graying of hair; Prominent nasal bridge; Scapular winging; Sensorineural hearing impairment; Short nose; Smooth philtrum; Spastic paraplegia; Sprengel anomaly; Supernumerary ribs; Supernumerary vertebrae; Synophrys; Synostosis of carpal bones; Telecanthus; Tented upper lip vermilion; Thick eyebrow; Ulnar deviation of finger; Ulnar deviation of the hand; Ulnar deviation of the wrist; Underdeveloped nasal alae; Variable expressivity; White eyebrow; White eyelashes; White forelock; White hair; Wide nasal bridgeWaardenburg Syndrome
PDHX11p1399.92%gene with protein product608769Abnormality of eye movement; Ataxia; Autosomal recessive inheritance; Congenital onset; Decreased activity of the pyruvate dehydrogenase complex; Dystonia; Epicanthus; Global developmental delay; High palate; Hyperalaninemia; Hypertelorism; Increased serum pyruvate; Intellectual disability; Lactic acidosis; Metabolic acidosis; Microcephaly; Neonatal hypotonia; Optic atrophy; Partial agenesis of the corpus callosum; Pectus excavatum; Poor fine motor coordination; Poor gross motor coordination; Seizures; Spastic paraplegia; Spastic tetraplegia; Subependymal cysts; Trigonocephaly; Unsteady gait; Variable expressivity
PEX36q24.299.76%gene with protein product603164Abnormal chorioretinal morphology; Abnormality of metabolism/homeostasis; Abnormality of movement; Abnormality of neuronal migration; Abnormality of retinal pigmentation; Abnormality of the liver; Abnormality of the palate; Anteverted nares; Areflexia; Ataxia; Autosomal recessive inheritance; Behavioral abnormality; Bilateral single transverse palmar creases; Broad forehead; Cataract; Clitoral hypertrophy; Cognitive impairment; Constriction of peripheral visual field; Corneal opacity; Cryptorchidism; Death in infancy; Decreased fetal movement; Depressed nasal bridge; Developmental regression; Dolichocephaly; Downslanted palpebral fissures; EEG abnormality; Elevated levels of phytanic acid; Epicanthus; Epiphyseal stippling; External ear malformation; Failure to thrive; Feeding difficulties; Feeding difficulties in infancy; Flat face; Flat occiput; Generalized hypotonia; Generalized neonatal hypotonia; Global developmental delay; Hepatic failure; Hepatomegaly; High forehead; High palate; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypospadias; Inverted nipples; Jaundice; Low-set ears; Low-set, posteriorly rotated ears; Macrocephaly; Malabsorption; Microcephaly; Micrognathia; Multicystic kidney dysplasia; Muscular hypotonia; Nephrocalcinosis; Neurogenic bladder; Nyctalopia; Nystagmus; Optic atrophy; Polymicrogyria; Posterior embryotoxon; Posteriorly rotated ears; Premature birth; Primary adrenal insufficiency; Profound global developmental delay; Progressive muscle weakness; Prolonged neonatal jaundice; Prominent nose; Ptosis; Pyloric stenosis; Reduced tendon reflexes; Respiratory insufficiency; Rod-cone dystrophy; Seizures; Sensorineural hearing impairment; Severe global developmental delay; Severe muscular hypotonia; Short stature; Skeletal dysplasia; Spastic paraplegia; Spasticity; Strabismus; Underdeveloped supraorbital ridges; Upslanted palpebral fissure; Very long chain fatty acid accumulation; Visual impairment; Wide anterior fontanel; Wide nasal bridge
PLP1Xq22.299.97%gene with protein product300401SPG2, PLPAbnormal pyramidal signs; Abnormality of extrapyramidal motor function; Ataxia; Babinski sign; Bowel incontinence; Cerebral dysmyelination; Choreoathetosis; Degeneration of the lateral corticospinal tracts; Delayed speech and language development; Dysarthria; Dysmetria; Dysphagia; Dystonia; Failure to thrive; Flexion contracture; Generalized hypotonia; Global developmental delay; Head titubation; Hyperreflexia; Infantile onset; Intellectual disability; Juvenile onset; Lower limb muscle weakness; Lower limb spasticity; Microcephaly; Muscle weakness; Muscular hypotonia; Nystagmus; Optic atrophy; Pes cavus; Phenotypic variability; Progressive spastic quadriplegia; Psychomotor deterioration; Reduction of oligodendroglia; Rotary nystagmus; Scanning speech; Short stature; Skeletal muscle atrophy; Slow progression; Spastic gait; Spastic paraparesis; Spastic paraplegia; Spastic/hyperactive bladder; Spinocerebellar tract degeneration; Sudanophilic leukodystrophy; Tremor; X-linked recessive inheritance
PNPLA619p13.299.99%gene with protein product603197Abnormal electroretinogram; Abnormality of metabolism/homeostasis; Abnormality of retinal pigmentation; Abnormality of the antitragus; Abnormality of the hand; Abnormality of the hypothalamus-pituitary axis; Areflexia; Ataxia; Atrophy of the spinal cord; Autosomal recessive inheritance; Babinski sign; Central heterochromia; Cerebellar atrophy; Chorioretinal dystrophy; Cryptorchidism; Decreased fertility; Delayed puberty; Distal amyotrophy; Distal lower limb muscle weakness; Distal muscle weakness; Finger syndactyly; Gait disturbance; Growth hormone deficiency; Gynecomastia; Hand polydactyly; Hemiplegia/hemiparesis; Hyperreflexia; Hypogonadotrophic hypogonadism; Hypoplasia of penis; Hyporeflexia; Intellectual disability; Intention tremor; Juvenile onset; Long eyebrows; Long eyelashes; Micropenis; Muscular hypotonia; Neurological speech impairment; Nystagmus; Obesity; Optic atrophy; Peripheral axonal neuropathy; Phenotypic variability; Photophobia; Pigmentary retinopathy; Progressive; Progressive spastic paraplegia; Progressive visual loss; Renal insufficiency; Retinal dystrophy; Scanning speech; Scrotal hypoplasia; Sensorineural hearing impairment; Severe short stature; Short stature; Small for gestational age; Spastic paraplegia; Spinocerebellar atrophyObesity
REEP12p11.299.98%gene with protein product609139C2orf23Ankle clonus; Areflexia; Autosomal dominant inheritance; Babinski sign; Brisk reflexes; Decreased motor nerve conduction velocity; Difficulty running; Difficulty walking; Distal amyotrophy; Distal muscle weakness; Distal sensory impairment; Dysarthria; Hyperreflexia in upper limbs; Hyporeflexia; Impaired proprioception; Lower limb hyperreflexia; Lower limb muscle weakness; Pes cavus; Proximal lower limb amyotrophy; Proximal muscle weakness in lower limbs; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia; Variable expressivity
REEP25q31.2100%gene with protein product609347C5orf19Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Hyperreflexia; Muscle stiffness; Slow progression; Spastic gait; Spastic paraplegia
RTN219q13.32100%gene with protein product603183SPG12Ankle clonus; Autosomal dominant inheritance; Babinski sign; Hyperreflexia; Impaired vibration sensation in the lower limbs; Knee clonus; Lower limb muscle weakness; Pes cavus; Progressive; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
SLC16A2Xq13.299.93%gene with protein product300095DXS128, AHDS, MRX22Abnormal conjugate eye movement; Abnormality of the neck; Absent speech; Aphasia; Ataxia; Athetosis; Babinski sign; Bilateral single transverse palmar creases; Biparietal narrowing; Bowel incontinence; Clonus; Congenital onset; Delayed CNS myelination; Drooling; Dysarthria; Feeding difficulties in infancy; Flexion contracture; Generalized amyotrophy; Hallux valgus; Hyperreflexia; Hypoplasia of the musculature; Hypoplasia of the zygomatic bone; Hypothyroidism; Inability to walk; Increased thyroid-stimulating hormone level; Intellectual disability, progressive; Intellectual disability, severe; Irritability; Joint stiffness; Leukodystrophy; Macrotia; Microcephaly; Narrow face; Narrow forehead; Neonatal hypotonia; Open mouth; Pectus excavatum; Pes planus; Prominent antihelix; Scoliosis; Severe global developmental delay; Skeletal muscle atrophy; Spastic paraplegia; Spastic tetraplegia; Stahl ear; Underfolded superior helices; Upslanted palpebral fissure; Urinary incontinence; X-linked dominant inheritance
SLC33A13q25.3199.87%gene with protein product603690ACATN, SPG42Absent speech; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; CNS hypomyelination; Congenital cataract; Decreased serum ceruloplasmin; Generalized hypotonia; Global developmental delay; Hearing impairment; Infantile onset; Lower limb hyperreflexia; Muscle weakness; Nystagmus; Pes cavus; Progressive; Skeletal muscle atrophy; Spastic gait; Spastic paraplegia
SPART13q13.3100%gene with protein product607111SPG20Ankle clonus; Autosomal recessive inheritance; Babinski sign; Brachydactyly; Camptodactyly; Cerebellar atrophy; Childhood onset; Clinodactyly; Difficulty walking; Distal amyotrophy; Drooling; Dysarthria; Dysmetria; Emotional lability; Global developmental delay; Hammertoe; Hyperextensible hand joints; Hyperplasia of midface; Hyperreflexia; Hypertelorism; Intellectual disability, mild; Knee clonus; Kyphoscoliosis; Lower limb muscle weakness; Motor delay; Pes cavus; Short foot; Short stature; Spastic gait; Spastic paraparesis; Spastic paraplegia; Upper limb spasticity
SPAST2p22.3100%gene with protein product604277SPG4Aggressive behavior; Agitation; Apathy; Autosomal dominant inheritance; Babinski sign; Degeneration of the lateral corticospinal tracts; Dementia; Depressivity; Disinhibition; Genetic anticipation; Hyperreflexia; Impaired vibration sensation in the lower limbs; Insidious onset; Intellectual disability; Low back pain; Lower limb muscle weakness; Memory impairment; Nystagmus; Paraplegia; Progressive; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Variable expressivity
SPG1115q21.199.98%gene with protein product610844KIAA1840Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of the periventricular white matter; Adult onset; Agenesis of corpus callosum; Amyotrophic lateral sclerosis; Ankle clonus; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Childhood onset; Cognitive impairment; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal muscle weakness; Distal peripheral sensory neuropathy; Distal sensory impairment; Dysarthria; Dysphagia; EMG abnormality; Fasciculations; Foot dorsiflexor weakness; Gait disturbance; Gaze-evoked nystagmus; Hyperreflexia; Hypoplasia of the corpus callosum; Impaired vibration sensation in the lower limbs; Intellectual disability; Juvenile onset; Knee clonus; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mental deterioration; Motor polyneuropathy; Nystagmus; Obesity; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Progressive; Pseudobulbar behavioral symptoms; Respiratory insufficiency due to muscle weakness; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Specific learning disability; Thenar muscle atrophy; Tip-toe gait; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventriculomegaly; Visual impairment
SPG1115q21.199.98%gene with protein product610844KIAA1840Abnormal lower motor neuron morphology; Abnormal pyramidal signs; Abnormal upper motor neuron morphology; Abnormality of the periventricular white matter; Adult onset; Agenesis of corpus callosum; Amyotrophic lateral sclerosis; Ankle clonus; Aplasia/Hypoplasia of the corpus callosum; Ataxia; Autosomal recessive inheritance; Babinski sign; Bulbar signs; Cerebral cortical atrophy; Childhood onset; Cognitive impairment; Decreased muscle mass; Decreased number of peripheral myelinated nerve fibers; Degeneration of the lateral corticospinal tracts; Distal amyotrophy; Distal muscle weakness; Distal peripheral sensory neuropathy; Distal sensory impairment; Dysarthria; Dysphagia; EMG abnormality; Fasciculations; Foot dorsiflexor weakness; Gait disturbance; Gaze-evoked nystagmus; Hyperreflexia; Hypoplasia of the corpus callosum; Impaired vibration sensation in the lower limbs; Intellectual disability; Juvenile onset; Knee clonus; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mental deterioration; Motor polyneuropathy; Nystagmus; Obesity; Peripheral axonal neuropathy; Pes cavus; Phenotypic variability; Progressive; Pseudobulbar behavioral symptoms; Respiratory insufficiency due to muscle weakness; Saccadic smooth pursuit; Seizures; Sensory neuropathy; Slow progression; Spastic gait; Spastic paraplegia; Spasticity; Specific learning disability; Thenar muscle atrophy; Tip-toe gait; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventriculomegaly; Visual impairment
SPG2115q22.31100%gene with protein product608181Autosomal recessive inheritance; Babinski sign; Dementia; Gait disturbance; Hyperreflexia; Lower limb muscle weakness; Onset; Slow progression; Spastic paraparesis; Spastic paraplegia; Variable expressivity
SPG716q24.3100%gene with protein product602783CMARAbnormal mitochondrial morphology; Adult onset; Attention deficit hyperactivity disorder; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral cortical atrophy; Degeneration of the lateral corticospinal tracts; Dysarthria; Dysphagia; Gait ataxia; Hyperreflexia; Impaired vibration sensation in the lower limbs; Lower limb hyperreflexia; Lower limb hypertonia; Lower limb muscle weakness; Lower limb spasticity; Memory impairment; Nasal speech; Nystagmus; Optic atrophy; Pes cavus; Ragged-red muscle fibers; Scoliosis; Slowed slurred speech; Spastic gait; Spastic paraplegia; Supranuclear gaze palsy; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency
STXBP19q34.11100%gene with protein product602926Abnormality of movement; Abnormality of skin morphology; Abnormality of the antitragus; Abnormality of the fingernails; Abnormality of the metacarpal bones; Absent speech; Aplasia/Hypoplasia of the cerebellum; Ataxia; Autosomal dominant inheritance; Camptodactyly of finger; Cerebral atrophy; Cerebral cortical atrophy; Cerebral hypomyelination; Clinodactyly of the 5th finger; Cutaneous photosensitivity; Developmental regression; EEG abnormality; EEG with burst suppression; Epileptic encephalopathy; Epileptic spasms; Febrile seizures; Fine hair; Focal clonic seizures; Gastroesophageal reflux; Generalized hypotonia; Generalized myoclonic seizures; Generalized tonic seizures; Generalized tonic-clonic seizures; Hearing impairment; Hypoplasia of the corpus callosum; Hypsarrhythmia; Impaired horizontal smooth pursuit; Infantile encephalopathy; Infantile spasms; Intellectual disability; Intellectual disability, severe; Long philtrum; Microcephaly; Muscular hypotonia; Myoclonus; Neonatal onset; Nephrolithiasis; Neurodevelopmental delay; Obtundation status; Pschomotor retardation; Seizures; Severe global developmental delay; Spastic paraplegia; Spastic tetraplegia; Spasticity; Status epilepticus; Thick vermilion border; Tremor; Underdeveloped nasal alae; Variable expressivity; Ventriculomegaly; Wide mouth; Wide nose
TECPR214q32.33100%gene with protein product615000KIAA0329Areflexia; Autosomal recessive inheritance; Brachycephaly; Broad neck; Central apnea; Cerebral atrophy; Dental crowding; Dysarthria; Dysmetria; Gait ataxia; Gastroesophageal reflux; Generalized hypotonia; Global developmental delay; Hypomimic face; Hypoplasia of the corpus callosum; Low anterior hairline; Microcephaly; Round face; Short neck; Short stature; Spastic gait; Spastic paraplegia
TFG3q12.2100%gene with protein product602498Abnormal myelination; Abnormality of peripheral nerve conduction; Abnormality of the Achilles tendon; Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Decreased number of peripheral myelinated nerve fibers; Degeneration of anterior horn cells; Difficulty climbing stairs; Difficulty standing; Distal lower limb amyotrophy; Distal sensory impairment; Fasciculations; Gait disturbance; Gliosis; Hyperlipidemia; Hyperreflexia; Inability to walk; Mildly elevated creatine phosphokinase; Motor polyneuropathy; Optic atrophy; Peripheral neuropathy; Proximal amyotrophy; Proximal muscle weakness; Sensorimotor neuropathy; Sensory neuropathy; Slow progression; Spastic paraplegia; Tetraplegia; Visual loss
TFG3q12.2100%gene with protein product602498Abnormal myelination; Abnormality of peripheral nerve conduction; Abnormality of the Achilles tendon; Adult onset; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Decreased number of peripheral myelinated nerve fibers; Degeneration of anterior horn cells; Difficulty climbing stairs; Difficulty standing; Distal lower limb amyotrophy; Distal sensory impairment; Fasciculations; Gait disturbance; Gliosis; Hyperlipidemia; Hyperreflexia; Inability to walk; Mildly elevated creatine phosphokinase; Motor polyneuropathy; Optic atrophy; Peripheral neuropathy; Proximal amyotrophy; Proximal muscle weakness; Sensorimotor neuropathy; Sensory neuropathy; Slow progression; Spastic paraplegia; Tetraplegia; Visual loss
TOE11p34.1100%gene with protein product613931Ambiguous genitalia; Apnea; Autosomal recessive inheritance; Cerebellar hypoplasia; Cerebral atrophy; Congenital onset; Depressed nasal bridge; Epicanthus; Generalized hypotonia; Global developmental delay; Hyperreflexia; Hypoplasia of the corpus callosum; Hypoplasia of the pons; Macrotia; Micrognathia; Micropenis; Myoclonus; Nystagmus; Oculomotor apraxia; Optic atrophy; Progressive microcephaly; Seizures; Spastic paraplegia; Sporadic; Thick upper lip vermilion; Wide nasal bridge
UCHL14p13100%gene with protein product191342PARK5Ankle clonus; Autosomal recessive inheritance; Babinski sign; Cerebellar atrophy; Cerebral atrophy; Dysmetria; Fasciculations; Flexion contracture; Head titubation; Myokymia; Myopia; Neurodegeneration; Nystagmus; Optic atrophy; Pes cavus; Pes planus; Progressive; Progressive visual loss; Spastic paraplegia; Tetraparesis
VAMP112p13.31100%gene with protein product185880SYB1Autosomal dominant inheritance; Dysarthria; Dysphagia; Dystonia; Gait disturbance; Hyperreflexia; Leg muscle stiffness; Memory impairment; Pes cavus; Ptosis; Slow saccadic eye movements; Spastic ataxia; Spastic paraplegia; Supranuclear gaze palsy; Variable expressivity
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
VPS37A8p22100%gene with protein product609927PQBP2Autosomal recessive inheritance; Clonus; Cognitive impairment; Delayed speech and language development; Gait disturbance; Global developmental delay; Hypertrichosis; Kyphosis; Spastic paraplegia
WASHC58q24.1399.95%gene with protein productformer name = KIAA0196610657SPG8, KIAA0196Abnormal mitral valve morphology; Abnormal tricuspid valve morphology; Abnormality of the fontanelles or cranial sutures; Adrenal hypoplasia; Adult onset; Anal atresia; Aortic valve stenosis; Aplasia/Hypoplasia of the cerebellum; Atrial septal defect; Atrioventricular canal defect; Autosomal dominant inheritance; Autosomal recessive inheritance; Babinski sign; Brachycephaly; Broad forehead; Cleft palate; Coloboma; Dandy-Walker malformation; Death in infancy; Degeneration of the lateral corticospinal tracts; Depressed nasal bridge; Double outlet right ventricle; Downslanted palpebral fissures; Frontal bossing; Generalized hypotonia; Global developmental delay; Growth hormone deficiency; Hemivertebrae; High forehead; High, narrow palate; Hydrocephalus; Hydronephrosis; Hyperreflexia; Hypertelorism; Hypoplastic left heart; Hypospadias; Impaired vibration sensation in the lower limbs; Insidious onset; Intellectual disability; Intrauterine growth retardation; Kyphosis; Low posterior hairline; Low-set ears; Lower limb muscle weakness; Lower limb spasticity; Macrocephaly; Micrognathia; Missing ribs; Muscular hypotonia; Neurological speech impairment; Pes cavus; Posterior fossa cyst; Progressive; Prominent occiput; Pulmonic stenosis; Recurrent respiratory infections; Scoliosis; Short nose; Short stature; Single umbilical artery; Spastic gait; Spastic paraplegia; Syndactyly; Tetralogy of Fallot; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Ventricular septal defect; Wide nasal bridge
ZFYVE2614q24.1100%gene with protein product612012SPG15Ataxia; Autosomal recessive inheritance; Babinski sign; Bowel incontinence; Clonus; Distal amyotrophy; Dysarthria; Hypoplasia of the corpus callosum; Intellectual disability; Lower limb muscle weakness; Lower limb spasticity; Macular degeneration; Mood swings; Pes cavus; Phenotypic variability; Progressive; Psychosis; Reduced visual acuity; Spastic gait; Spastic paraplegia; Urinary bladder sphincter dysfunction; Urinary incontinence; Urinary urgency; Visual impairment
ZFYVE2710q24.2100%gene with protein product610243Ankle clonus; Autosomal dominant inheritance; Babinski sign; Lower limb muscle weakness; Lower limb spasticity; Spastic gait; Spastic paraplegia; Talipes equinovarus


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