Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
solute carrier family 17 (anion/sugar transporter), member 5
Synonyms:
4631416G20Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Slc17a5 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Slc17a5 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Salla Disease
Spasticity, Seizure, Inability to walk, Ataxia, Athetosis, Growth delay OMIM:604369
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hydrocephalus, Seizure OMIM:269920

The table below shows human diseases predicted to be associated to Slc17a5 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Stxbp1-Related Encephalopathy
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Spastic tetr... ORPHA:599373
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Seizure, Cerebral atrophy, Secondary microcephaly, Inabili... OMIM:617672
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Leukoencephalopathy, Spasticity, Reduced cerebral white matter volume, Seizure, Secondary microce... OMIM:620317
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Leukoencephalopathy, Brain Calcifications, And Cysts
Leukoencephalopathy, Spasticity, Seizure, Leukodystrophy, Hemiplegia, Cerebral calcification, Tre... OMIM:614561
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Falls, Seizure, Cerebral atrophy, Action tremor, Hypoplasia of the corpus callosum, R... OMIM:300423
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Spasticity, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Abnorma... OMIM:221770
Peroxisome Biogenesis Disorder 8B
Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Loss of ambulation, Cl... OMIM:614877
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Myoclonic seizure, Hypoplasia of the pons, Hypoplasia of the brainstem, Infa... OMIM:619301
Autosomal Spastic Paraplegia Type 58
Spasticity, Peripheral demyelination, Spastic ataxia, Abnormal pyramidal sign, Clonus, Torticolli... ORPHA:397946
Autosomal Recessive Spastic Paraplegia Type 71
Progressive spastic paraplegia, Hand tremor, Hypoplasia of the corpus callosum, Babinski sign, Lo... ORPHA:401840
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Seizure, Decreased nerve conduction velocity, Peripheral demyelination, Abnormal periventricular ... OMIM:249900
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Decreased motor nerve co... OMIM:614895
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Myoclonic seizure, Hypoplasia of the brainstem, Partial agenesis of the corp... OMIM:619302
Null Syndrome
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Difficulty walking, Inability... ORPHA:280234
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Adult Krabbe Disease
Spasticity, Broad-based gait, Tetraparesis, Peripheral demyelination, CNS demyelination, Abnormal... ORPHA:206448
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Lissencephaly 3
Seizure, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis... OMIM:611603
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy, Myoclonic seizure, Cerebral atrophy, Bilateral tonic-clonic seizure with focal ons... OMIM:611726
Roussy-Levy Hereditary Areflexic Dystasia
Upper limb postural tremor, Hypertrophic nerve changes, Decreased motor nerve conduction velocity... OMIM:180800
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Focal impaired awareness seizure, Seizure, Difficulty walking, ... ORPHA:330050
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Retinal degeneration, Babinski sign, Microce... OMIM:614322
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... ORPHA:206594
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebral cortical atrophy, Broad-based gait, Hand tremor, Gait ataxia, Hypoplasia of the corpus c... OMIM:617862
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Hand tremor, Difficulty walking, Peripheral demyelination, Decreased compound muscle action poten... OMIM:618279
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Tip-toe gait, Tetraparesis, Hypoplasia of the corpus callosum, Decreased number of peripheral mye... ORPHA:2386
Foxg1 Syndrome
Abnormal corpus callosum morphology, Spasticity, Optic disc hypoplasia, Pachygyria, Difficulty wa... ORPHA:561854
Developmental And Epileptic Encephalopathy 34
Seizure, Cerebral atrophy, Secondary microcephaly, Inability to walk, Focal-onset seizure, Focal ... OMIM:616645
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Spasticity, Cerebral atrophy, Inability to walk, Infantile spasms, Periventricular... OMIM:619701
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Reduced cerebral white matter volume, Infantile spasm... OMIM:618396
Autosomal Recessive Spastic Paraplegia Type 67
Cerebral cortical atrophy, Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus... ORPHA:401820
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Difficulty walking, Hypoplasia of the corpus callosum, Periphe... OMIM:615035
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Difficulty walking, Axonal degeneration/regeneration, Steppage gait, Segmental peripheral demyeli... OMIM:606483
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Axonal degeneration/regener... OMIM:609260
Optic Atrophy 2
Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign OMIM:311050
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral demyelination, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Steppag... OMIM:620378
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral tonic-clonic s... OMIM:616540
Congenital Disorder Of Glycosylation, Type Iiy
Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Delayed CNS myelination, At... OMIM:620200
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Tongue fasciculations, Spasticity, Hypoplasia of the pons, Tetraparesis, Inability to walk, Motor... OMIM:618276
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Tremor, Clusters of axonal regeneration, Decreased num... OMIM:607734
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Reduced cerebral white matter volume, Seizure, Cerebral atrophy, E... OMIM:617711
Infantile Cerebellar-Retinal Degeneration
Ataxia, Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Microcephaly... OMIM:614559
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Falls, Difficulty walking, Decreased nerve conduction velocit... ORPHA:2932
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Broad-based gait, Decreased motor nerve conduc... OMIM:145900
Isolated Focal Cortical Dysplasia
Abnormal cortical gyration, Focal impaired awareness seizure, Seizure, Generalized-onset seizure,... ORPHA:65683
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Involuntary movements, Cerebral atrophy, Chorea, Infantile spasms, Hypoplasia of the ... OMIM:617493
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Focal myoclonic seizure, Seizure, Progressive spastic p... ORPHA:464282
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Gait disturbance, Rod-cone dystrophy, Segmental peripheral demyelination/remyelina... OMIM:311070
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Crouch gait, Intrauterine growth retardat... OMIM:620145
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased nerve conduction... OMIM:601098
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Gait ataxia, Tremor, Absence seizure with eyelid myoclonia, Abnormal cerebral ... OMIM:618587
Epilepsy, Progressive Myoclonic, 8
Action myoclonus, Falls, Limb ataxia, Myoclonus, Gait disturbance, Bilateral tonic-clonic seizure... OMIM:616230
Spinocerebellar Ataxia Type 43
Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropathy, Decreased number of la... ORPHA:497764
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Spastic paraplegia, Hypoplasia of the corpus callosum, Dysplastic corpus callosum,... OMIM:613162
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat... OMIM:615006
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Steppage gait, Onion bulb formation OMIM:616039
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Lower limb spasticity, Bilateral tonic-clonic seizure, Inability to walk OMIM:619639
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebral cortical atrophy, Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal... OMIM:615362
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu... ORPHA:101097
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Generalized non-motor (absence) seizure, Epileptic spasm, Focal-... OMIM:619606
Epilepsy, Familial Adult Myoclonic, 3
Giant somatosensory evoked potentials, Difficulty walking, Myoclonus, Tremor, Enhancement of the ... OMIM:613608
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Peripheral demyelination, ... OMIM:118200
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Myoclonic seizure, CNS hypomyelination, Cerebral atrophy, Febrile seizure (within ... OMIM:618012
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Bilate... OMIM:617389
Dravet Syndrome
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... OMIM:607208
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Decreased mot... OMIM:214400
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Difficulty walking, Epileptic spasm, Inability to walk, Diffuse cerebral atrop... OMIM:616346
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Spastic tetraplegia, Seizure, Tetraparesis, Small basal ganglia, Infantile spasms, Abnormal basal... ORPHA:263410
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Leukoencephalopathy, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, S... OMIM:204300
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia ORPHA:22
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Microcephaly, Tonic seiz... OMIM:617391
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Peripheral demyelination, Steppage gait, Onion bulb formation OMIM:615185
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Macular degeneration, Tip-toe gait, Abnormal periv... OMIM:604360
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Seizure, Cerebral atrophy, Myoclonus, Abnormality of extrapy... OMIM:204200
Krabbe Disease
Optic atrophy, Seizure, Decreased nerve conduction velocity, Peripheral demyelination, Diffuse ce... OMIM:245200
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Hypoplasia of the brainstem, Polymicrogyria, Infantile spasms, Agenesis of corpus callos... ORPHA:250972
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Steppage gait, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Steppage gait, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... OMIM:607677
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Peripheral axonal neuropathy... OMIM:607317
Developmental And Epileptic Encephalopathy 58
Optic atrophy, Seizure, Secondary microcephaly, Inability to walk, Delayed myelination, Status ep... OMIM:617830
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Rigidity, Tremor, Hypoplasia of the corpus callosum, T... OMIM:618090
Congenital Disorder Of Glycosylation, Type Iaa
Cerebral cortical atrophy, Pseudobulbar paralysis, Intrauterine growth retardation, Attenuation o... OMIM:617082
Developmental And Epileptic Encephalopathy 37
Spasticity, Cerebral atrophy, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rig... OMIM:616981
Charcot-Marie-Tooth Disease, Type 4K
Difficulty walking, Peripheral demyelination, Ataxia, Axonal loss, Dystonia OMIM:616684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decreased number of periph... OMIM:118220
Malignant Migrating Focal Seizures Of Infancy
Abnormal corpus callosum morphology, Myoclonic seizure, Cerebral atrophy, Inability to walk, Epil... ORPHA:293181
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Unsteady gait, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Secondary m... OMIM:616409
Charcot-Marie-Tooth Disease, Type 4H
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609311
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia OMIM:616187
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Myoclonic seizure, Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism... OMIM:162350
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:617810
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, T... OMIM:614018
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Leukoencephalopathy, Spasticity, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia OMIM:611105
Metachromatic Leukodystrophy
Optic atrophy, Seizure, Decreased nerve conduction velocity, Peripheral demyelination, Chorea, Ba... OMIM:250100
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral a... OMIM:620537
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Seizure, Tetraparesis, Generalized-onset seizure, Hypoplasia of the brainstem, Polymicrogyria, In... OMIM:610031
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral demyelination, Gait imb... ORPHA:99953
Lennox-Gastaut Syndrome
Falls, Abnormal brainstem morphology, Myoclonus, Focal-onset seizure, Generalized tonic seizure, ... ORPHA:2382
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure, Dyst... OMIM:618425
Autosomal Recessive Spastic Paraplegia Type 35
Difficulty walking, Peripheral demyelination, Hypoplasia of the corpus callosum, Spastic tetrapar... ORPHA:171629
Clcn4-Related X-Linked Intellectual Disability Syndrome
Cerebral cortical atrophy, Upper limb spasticity, Seizure, Generalized non-motor (absence) seizur... ORPHA:485350
Progressive Myoclonic Epilepsy Type 3
Optic atrophy, Limb myoclonus, Focal myoclonic seizure, Febrile seizure (within the age range of ... ORPHA:263516
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Difficulty walking, Inability t... ORPHA:2590
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... OMIM:608105
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Tip-toe gait, Hand tremor, Incoordination, Difficulty ... OMIM:302800
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Intrauterine growth retardation, Abnormal lateral ventricle morphology, Gait ataxia, Gai... ORPHA:488635
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropathy, Atrophy/Degeneration a... OMIM:615957
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Gait imbalance, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Rod-cone dystrophy, U... OMIM:301020
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Cerebral atrophy, Peripheral demyelination, Chorea, Ax... OMIM:604168
Episodic Ataxia, Type 1
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech OMIM:160120
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Pr... OMIM:245570
Chudley-Mccullough Syndrome
Seizure, Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydroceph... OMIM:604213
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Spasticity, Spastic paraplegia, Inability to walk, Abnormality of peripheral nerve... ORPHA:431329
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Tongue fasciculations, Basal lamina o... OMIM:601596
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Ataxia, Optic atrophy, Myoclonic seizure, Reduced cerebral white matter volume, Seizure, Hypoplas... OMIM:618174
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Peripheral hypomy... OMIM:611228
Developmental And Epileptic Encephalopathy 98
Cerebral atrophy, Secondary microcephaly, Refractory status epilepticus, Focal-onset seizure, Clo... OMIM:619605
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Spasticity, Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of ... OMIM:614039
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Spastic paraplegia, Seizure, Difficulty walking, Abnormal periventricular white ma... OMIM:612319
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Microcephaly, Bilateral tonic-clonic seizure, Ataxia OMIM:617709
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex, Bilateral tonic-cloni... OMIM:601068
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Seizure, Hypoplasia of the brainstem, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ... OMIM:618730
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Broad-based gait, Seizure, Cerebral atrophy, Inability to walk, Hypoplasia of the corpus callosum... OMIM:616756
Developmental And Epileptic Encephalopathy 28
Spasticity, Secondary microcephaly, Cerebral calcification, Hypoplasia of the corpus callosum, De... OMIM:616211
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Dystonia, Clumsin... OMIM:619911
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Spasticity, Seizure, Hypoplasia of the brainstem, Cerebral atrophy, Inability to walk, Absent sep... OMIM:618492
Polymicrogyria Due To Tubb2B Mutation
Abnormal corpus callosum morphology, Hypoplasia of the pons, Seizure, Lateral ventricle dilatatio... ORPHA:300573
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 59
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... OMIM:617904
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Typical absence seizure, Seizure, Focal clonic seizure, Speech apraxia... ORPHA:725
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Seizure, Periventricular white matter hyperintensities, Tremor, ... OMIM:619470
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Myoclonus, Tremor, Enhancement of the C-reflex, Bilateral tonic-clonic seizure OMIM:615127
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Cerebral atrophy, Secondary microcephaly, Epileptic spasm, Inability ... OMIM:618497
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Epilepsia partialis continua, Involuntary movements, Sensory axonal neuropathy, Ce... OMIM:271245
Lissencephaly Due To Tuba1A Mutation
Spasticity, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Polymicrogyria, Infanti... ORPHA:171680
Episodic Ataxia, Type 9
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Dystonia... OMIM:618924
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Delayed brainstem auditory evoked response conduction time, CNS hypomyelinati... OMIM:610532
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Difficulty walking, Axonal regeneration, Decreased sen... OMIM:608323
Autosomal Recessive Spastic Paraplegia Type 69
Cerebral cortical atrophy, Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Agene... ORPHA:401830
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Steppage ... OMIM:608340
Severe Canavan Disease
Optic atrophy, Spasticity, Seizure, Inability to walk, Babinski sign, Cerebral white matter atrop... ORPHA:314911
Adult-onset autosomal dominant leukodystrophy (ADLD)
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... DECIPHER:59
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Occipital encephalocele, Seizure, Hypoplasia of the brainstem, Type II lissencepha... ORPHA:352682
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Gait ataxia,... OMIM:605021
Developmental And Epileptic Encephalopathy 11
Spastic tetraplegia, Bilateral tonic-clonic seizure with focal onset, Hyperkinetic movements, Bil... OMIM:613721
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Hypoplasia of the pons, Motor axonal neuropathy, Decreased number of p... OMIM:620542
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Steppage gait, Axonal degeneration/regeneration OMIM:607736
Charcot-Marie-Tooth Disease, Type 4B2
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... OMIM:604563
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Tremor, Hypoplasia of the corpus c... OMIM:300983
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Difficulty walking, Peripheral axonal neuropathy, Decreased number of large periph... OMIM:617087
Salt And Pepper Developmental Regression Syndrome
Optic atrophy, Myoclonus, Microcephaly, Bilateral tonic-clonic seizure, Status epilepticus, Chore... OMIM:609056
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Mic... OMIM:616139
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Cerebral atrophy, Seizure, Decreased number of periphe... OMIM:607250
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Intrauterine growth retardation, Neonatal death, CNS demyelination, Bilateral toni... OMIM:618237
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Lissencephaly, Seizure, Bilateral tonic-clonic seizure, Pachygyria, Megalencephaly OMIM:614499
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Chromosome 15Q11-Q13 Duplication Syndrome
Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait, Seizure OMIM:608636
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Spastic paraplegia, Demyelinating sensory neuropathy, Onion bulb ... OMIM:182815
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Gait disturbance ORPHA:99944
Bilateral Generalized Polymicrogyria
Spasticity, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Focal motor seizure,... ORPHA:208447
Developmental And Epileptic Encephalopathy 4
Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Epileptic spasm, Tremor, Hypoplasia of... OMIM:612164
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Methionine Adenosyltransferase I/Iii Deficiency
Dystonia, Peripheral demyelination, CNS demyelination OMIM:250850
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral hypomyelination, Paraly... OMIM:605285
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... OMIM:619317
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Febrile seizure (within the age range of 3 months to 6 years), Secondary microcephaly, Epileptic ... ORPHA:289266
Lissencephaly, X-Linked, 1
Spasticity, Seizure, Postnatal growth retardation, Agenesis of corpus callosum, Ataxia, Pachygyri... OMIM:300067
Developmental And Epileptic Encephalopathy 16
Optic atrophy, Cerebral atrophy, Secondary microcephaly, Myoclonus, Hemiparesis, Abnormality of e... OMIM:615338
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Spasticity, Abnormal cerebral cortex morphology, Seizure, Abnormal brainstem morph... ORPHA:411493
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Cerebral atrophy, Tetraparesis, Inability to walk, Epileptic spasm... OMIM:617105
Giant Axonal Neuropathy 2, Autosomal Dominant
Peripheral axonal neuropathy, Steppage gait, Decreased motor nerve conduction velocity, Onion bul... OMIM:610100
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Seizure, Inability to walk, Periventricular leukomalacia, Appendicular spasticity,... OMIM:618324
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Developmental And Epileptic Encephalopathy 63
Cerebral cortical atrophy, Myoclonic seizure, Seizure, Cerebral palsy, Generalized-onset seizure,... OMIM:617976
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Decreased number of ... OMIM:605588
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Spastic ataxia, Oculom... OMIM:614487
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Dyskinesia, Limb And Orofacial, Infantile-Onset
Seizure, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus OMIM:616921
Alternating Hemiplegia Of Childhood 1
Episodic hemiplegia, Bilateral tonic-clonic seizure, Dystonia, Episodic quadriplegia, Choreoathet... OMIM:104290
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Abnormal periventricular white matter morphology, Myoclonus, Cogwheel rig... OMIM:619725
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Sh... OMIM:617836
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Microcepha... OMIM:619157
Landau-Kleffner Syndrome
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Seizure, Generalized non... ORPHA:98818
Leukodystrophy, Hypomyelinating, 18
Spasticity, Seizure, Secondary microcephaly, Decreased nerve conduction velocity, Abnormal perive... OMIM:618404
Neuropathy, Hereditary, With Liability To Pressure Palsies
Segmental peripheral demyelination/remyelination, Froment sign, Decreased motor nerve conduction ... OMIM:162500
Peho-Like Syndrome
Optic atrophy, Polymicrogyria, Myoclonus, Hypoplasia of the corpus callosum, Progressive microcep... OMIM:617507
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Focal tonic seiz... OMIM:617106
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Generalized myoclonic seizure, Lateral ventricle dilatation, Infantile spasm... ORPHA:101071
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Sensory axonal neuropathy, Myoclonus, Dysmetria, Tremor, Babinski sign, Atonic seizure, G... OMIM:612437
Perioral Myoclonia With Absences
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... ORPHA:139426
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Progressive extrapyramidal movement disorder, Generalized myoclonic seizure, Seizure, Cho... ORPHA:382
Dystonia 22, Juvenile-Onset
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Lower limb spasticity, B... OMIM:620453
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Fasciculations, Decreased compound muscle action poten... OMIM:600882
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Hydrocephalus, Clonic seizure, Bilateral tonic-clonic seizure, Sta... OMIM:266100
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo... OMIM:615400
Seizures, Benign Familial Infantile, 5
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Inability to walk, Facial diplegia, Decreased number o... OMIM:618184
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal corpus callosum morphology, Seizure, Tetraparesis, Cerebral atrophy, Abnormal brainstem ... ORPHA:255182
Bilateral Frontoparietal Polymicrogyria
Typical absence seizure, Hypoplasia of the pons, Seizure, Hypoplasia of the brainstem, Gait imbal... ORPHA:101070
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc... OMIM:618141
Pontocerebellar Hypoplasia Type 2
Spasticity, Abnormal cortical gyration, Seizure, Upper limb hypertonia, Hypoplasia of the brainst... ORPHA:2524
Hsd10 Disease
Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Postnatal growth re... ORPHA:391417
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome
Spastic paraplegia, Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months ... ORPHA:477673
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Broad-based gait, Inability to walk, Infantile spasms, Hypoplasia of the corpus callosum, Microce... OMIM:618470
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, ... OMIM:607706
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Spastic gait, Cerebral atrophy, Gait ataxia, Dysmetria, Hypoplasia of the cor... OMIM:615031
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination, Seizure, Leukodystroph... OMIM:607694
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Diffuse white matter abnormalities, Decreased motor nerve conduction velocity, Seizure, Inability... OMIM:218000
Developmental And Epileptic Encephalopathy 47
Secondary microcephaly, Inability to walk, Limb ataxia, Attenuation of retinal blood vessels, Foc... OMIM:617166
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Inability to walk, Action tremor, Dysmetria, Hypoplasia of the ... ORPHA:93952
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Sensory axonal neuropathy, Cerebral atrophy, Inability to walk, Decreased nerve co... ORPHA:457205
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Spasticity, Cerebral cortical atrophy, Abnormal optic nerve morphology, Seizure, T... ORPHA:33445
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Gait ... OMIM:607684
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Spasticity, Cerebral atrophy, Febrile seizure (within the age range of 3 months to 6 years), Inab... OMIM:618917
Lissencephaly 4
Seizure, Agenesis of corpus callosum, Babinski sign, Colpocephaly, Primary microcephaly, Hyperton... OMIM:614019
Lissencephaly 9 With Complex Brainstem Malformation
Spasticity, Myoclonic seizure, Involuntary movements, Hypoplasia of the pons, Seizure, Hypoplasia... OMIM:618325
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Spasticity, Seizure, Pseudobulbar paralysis, Microcephaly, Bilateral tonic-clonic seizure, Cortic... ORPHA:208441
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Broad-based gait, Pigmentary retinopathy, Peripheral demyelination, Attenuation of... OMIM:609033
Sandhoff Disease, Adult Form
Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia ORPHA:309169
Spinocerebellar Ataxia Type 25
Gait ataxia, Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic... ORPHA:101111
Spinocerebellar Ataxia 40
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... OMIM:616053
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Cerebral atrophy, Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti... ORPHA:500166
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ataxia, Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Peripheral axo... ORPHA:313772
Developmental Delay With Or Without Epilepsy
Ataxia, Spasticity, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:620540
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Postural tremor, Babinski sign, Lower limb spasticity, Gait disturbance, Bila... ORPHA:100988
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormal corpus callosum morphology, Optic atrophy, Spasticity, Involuntary movements, Seizure, C... ORPHA:442835
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Fasciculations, Axonal degeneration, Decreased number of peripheral myelinated nerve... OMIM:604484
Developmental And Epileptic Encephalopathy 43
Ataxia, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atyp... OMIM:617113
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cerebral cortical atrophy, Intrauterine growth retardation, Chorea, Abnormality of peripheral ner... ORPHA:48431
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, Short stature, Dystonia, Spasti... OMIM:619065
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Delayed CNS myelinati... OMIM:616421
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Leukodystrophy, Pseudobulbar paralysis, Autonomic bladder dysfunction, Orthostatic hy... OMIM:169500
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz... OMIM:619616
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Spasticity, Seizure, Leukodystrophy, Tremor, Rigidity, Microcephaly, Cerebral hypo... OMIM:612438
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus, Tremor... OMIM:612736
Succinic Semialdehyde Dehydrogenase Deficiency
Seizure, Generalized non-motor (absence) seizure, Hyperkinetic movements, Delayed CNS myelination... OMIM:271980
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Bilateral tonic-clonic seizure OMIM:617863
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Cortical Malformations, Occipital
Pachygyria, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Polymicr... OMIM:614115
Developmental And Epileptic Encephalopathy 12
Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:613722
4H Leukodystrophy
Optic atrophy, Striatal T2 hyperintensity, Seizure, Upper motor neuron dysfunction, Dysmetria, Tr... ORPHA:289494
Developmental And Epileptic Encephalopathy 61
Optic atrophy, Spasticity, Seizure, Cerebral atrophy, Secondary microcephaly, Focal clonic seizur... OMIM:617933
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Polymicrogyria, Generalized-onset seizure, Hypoplasia of the corpus callosum, Hemiparesi... OMIM:604317
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia OMIM:619191
Multiple Mitochondrial Dysfunctions Syndrome 6
Leukoencephalopathy, Optic atrophy, Spasticity, Seizure, Secondary microcephaly, Inability to wal... OMIM:617954
Developmental And Epileptic Encephalopathy 52
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... OMIM:617350
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Peripheral demyelination, Onion bulb formation OMIM:608236
Dystonia 28, Childhood-Onset
Spasticity, Tip-toe gait, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Microcephaly, Crani... OMIM:617284
Spinocerebellar Ataxia 23
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Agenesis of corpus callosum, Babinski sign, CNS demy... OMIM:610245
Myoclonic Epilepsy Of Infancy
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... ORPHA:86909
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Oxoglutarate Dehydrogenase Deficiency
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia OMIM:203740
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... OMIM:608673
Molybdenum Cofactor Deficiency, Type B
Seizure, Cerebral atrophy, Peripheral demyelination, Hypoplasia of the corpus callosum, Neonatal ... OMIM:252160
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilateral tonic-clonic seizu... OMIM:618093
Developmental And Epileptic Encephalopathy 23
Hypoplasia of the pons, Infantile spasms, Myoclonus, Hypoplasia of the corpus callosum, Tonic sei... OMIM:615859
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... ORPHA:216873
Developmental And Epileptic Encephalopathy 97
Inability to walk, Epileptic spasm, Tremor, Seizure OMIM:619561
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Lethal Congenital Contracture Syndrome 8
Neonatal death, Facial diplegia, Vocal cord paralysis, Peripheral hypomyelination OMIM:616287
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Spasticity, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Oculomoto... ORPHA:529665
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Tongue fasciculations, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy, Dysmet... OMIM:618170
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Developmental And Epileptic Encephalopathy 24
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... OMIM:615871
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Polymicrogyria, ... ORPHA:79243
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Normal pressure hydrocephalus, Kinetic tremor, Gait disturbance, Tremor OMIM:611808
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... OMIM:605407
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Decreased motor nerv... OMIM:615376
X-Linked Charcot-Marie-Tooth Disease Type 3
Spastic paraparesis, Decreased motor nerve conduction velocity, Difficulty walking, Inability to ... ORPHA:101077
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Peripheral demyelination, Paraplegia ORPHA:71211
Dentici-Novelli Neurodevelopmental Syndrome
Myoclonic seizure, Inability to walk, Epileptic spasm, Microcephaly, Delayed CNS myelination, Hyp... OMIM:619877
Familial Focal Epilepsy With Variable Foci
Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Infantile spasms, Focal-onset seizu... ORPHA:98820
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Leukoencephalopathy, Demyelinating sensory neuropathy, Gait ataxia, Dysmetria, Tremor, Peripheral... OMIM:618387
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Spastic Ataxia, Charlevoix-Saguenay Type
Spasticity, Spastic gait, Falls, Decreased motor nerve conduction velocity, Progressive truncal a... OMIM:270550
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Spasticity, Spastic paraparesis, Peripheral demyelination, Peripheral hypomyelination, Demyelinat... OMIM:609136
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Severe Neonatal-Onset Encephalopathy With Microcephaly
Spasticity, Involuntary movements, Seizure, Cerebral atrophy, Polymicrogyria, Microcephaly, Bilat... ORPHA:209370
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Microcephaly, Paraparesis, Bilateral tonic-clonic sei... ORPHA:726
Pelizaeus-Merzbacher Disease
Broad-based gait, Progressive spastic quadriplegia, Abnormal pyramidal sign, Ataxia, Choreoatheto... OMIM:312080
Multiple Sulfatase Deficiency
Spasticity, Cerebral atrophy, Peripheral demyelination, Abnormal periventricular white matter mor... OMIM:272200
Migraine, Familial Hemiplegic, 1
Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia OMIM:141500
Leukodystrophy, Hypomyelinating, 2
Optic atrophy, Progressive spasticity, Spastic paraparesis, Sensory axonal neuropathy, Decreased ... OMIM:608804
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Hemidystonia, Fo... ORPHA:1929
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Sensory axonal neuropathy, Dysdiadochokinesis, Myoclonus, Gait ataxia, Dysmetria, ... ORPHA:254881
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Gait disturbance, Axona... OMIM:601455
Developmental And Epileptic Encephalopathy 79
Migrating focal seizure, Cerebral cortical atrophy, Spasticity, Myoclonic seizure, CNS hypomyelin... OMIM:618559
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Folinic Acid-Responsive Seizures
Ataxia, Optic atrophy, Broad-based gait, Generalized myoclonic seizure, Frontotemporal cerebral a... ORPHA:79097
Brain Small Vessel Disease 2
Polymicrogyria, Hemiplegia, Focal-onset seizure, Schizencephaly, Bilateral tonic-clonic seizure, ... OMIM:614483
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Cerebral cortical atrophy, Focal impaired awareness seizure, Seizure, Head tremor, Infantile spas... OMIM:619428
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Seizure, Midline brainstem cleft, Hemiparesis, Agenesis of corpus callosu... OMIM:617542
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Abnormal caudate nucleus morphology, Tremor, Rigidity, Dystonia, Babi... ORPHA:314632
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Spastic paraplegia, Episodic ataxia, Abnormal pyramidal sign, Bilateral tonic-clonic seizure, Dys... ORPHA:53583
Tubulinopathy-Associated Dysgyria
Abnormal corpus callosum morphology, Abnormality of the internal capsule, Hypoplasia of the pons,... ORPHA:467166
Glutaric Acidemia I
Lateral ventricle dilatation, Seizure, Symmetrical progressive peripheral demyelination, Rigidity... OMIM:231670
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements
Convulsive status epilepticus, Inability to walk, Chorea, Hypoplasia of the corpus callosum, Dyst... OMIM:618760
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function OMIM:165300
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Myoclonic seizure, Tetraparesis, Antalgic gait, Tremor, Microcephaly, Tonic seizure, ... OMIM:620546
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Cerebral atrophy, Microcephaly, Bilateral tonic-clonic se... OMIM:226750
Spastic Paraplegia 6, Autosomal Dominant
Spastic paraplegia, Seizure, Tremor, Degeneration of the lateral corticospinal tracts, Babinski s... OMIM:600363
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Hypoplasia of the brainstem, Myoclonus, Tremor, Dystonia, Thin corpus callosum OMIM:619651
Coenzyme Q10 Deficiency, Primary, 8
Postnatal growth retardation, Peripheral demyelination, Intrauterine growth retardation OMIM:616733
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Progressive cerebellar ataxia, Optic atrophy, Seizure, Cerebral atrophy, Difficulty walking, Trem... ORPHA:137898
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Cerebral atrophy, Seizure, Agenesis of corpus callosum, Partial agenesis of the corpus callosum, ... ORPHA:85179
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Loss of ambulation, Microcephaly, Gait disturbance, Onion bu... OMIM:615284
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal)
Broad-based gait, Hypoplasia of the pons, Seizure, Hypoplasia of the brainstem, Dysmetria, Ankle ... OMIM:606854
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Generalized non-motor (absence) seizure, Epilepti... OMIM:619913
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Charcot-Marie-Tooth Disease Type 2B1
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Basal Ganglia Calcification, Idiopathic, 1
Seizure, Basal ganglia calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkins... OMIM:213600
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Involuntary movements, Myoclonic seizure, Lateral ventricle dilatation, Seizure, Inability to wal... OMIM:615716
Juvenile Neuronal Ceroid Lipofuscinosis
Poor motor coordination, Pigmentary retinopathy, Seizure, Cerebral atrophy, Focal T2 hyperintense... ORPHA:79264
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Abetalipoproteinemia
Peripheral demyelination, Retinopathy, Retinal degeneration, CNS demyelination, Ataxia OMIM:200100
Prune1-Related Neurological Syndrome
Optic atrophy, Tongue fasciculations, Myoclonic seizure, Spastic paraparesis, Seizure, Cerebral a... ORPHA:544469
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Leukoencephalopathy, Spastic paraplegia, Tip-toe gait, Cerebral atrophy, Abnormal optic nerve mor... ORPHA:83629
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Cerebral atrophy, Dysmetria, Tremor, Hypoplasia of the corpus callosum, Loss of a... OMIM:617916
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spasticity, Seizure, Intrauterine growth retardation, Agenesis of corpus callosum,... OMIM:618238
Ravine Syndrome
Spasticity, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Abnormal basal ga... ORPHA:99852
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia OMIM:254800
Spinocerebellar Ataxia 37
Unsteady gait, Frequent falls, Tremor, Ataxia OMIM:615945
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ... OMIM:615924
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Spastic paraparesis, Seizure, Cerebral atrophy, Tremor, Rigidity, Dystonia, Parkin... ORPHA:329284
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Seizure, Speech apraxia, Focal-onset seizure, Hypoplasia of the corpus callosum, Bilateral tonic-... ORPHA:163721
Leukoencephalopathy With Calcifications And Cysts
Leukoencephalopathy, Spasticity, Seizure, Intracerebral periventricular calcifications, Basal gan... ORPHA:542310
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Optic atrophy, Abnormal nerve conduction velocity, Fasciculations,... ORPHA:98755
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Combined Oxidative Phosphorylation Deficiency 54
Seizure, Generalized-onset seizure, Secondary microcephaly, Intrauterine growth retardation, Peri... OMIM:619737
Mitochondrial Complex I Deficiency, Nuclear Type 19
Optic atrophy, Seizure, Secondary microcephaly, Inability to walk, Myoclonus, Rigidity, Loss of a... OMIM:618241
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Dysplastic corpus callosum, Babinski sign, Microcephaly, Dys... OMIM:252650
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia, Focal polymicrogyria, Hypoplasia of the brainstem, Dysgenesis of the basal gan... OMIM:615771
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebral atrophy, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski si... ORPHA:521406
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia ORPHA:401901
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Spastic paraparesis, Difficulty walking, Inability to walk, Facial diplegia, Hypop... ORPHA:254930
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Difficulty walking, Myoclonus, Tremor, Facial p... OMIM:159950
Leukodystrophy, Hypomyelinating, 11
Spasticity, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Hypoplasia of the corpus call... OMIM:616494
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Inability to walk, Decreased nerve conduction velocity, Chronic axonal neurop... ORPHA:99948
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, Microcephaly, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus ORPHA:494526
Encephalopathy Due To Prosaposin Deficiency
Dystonia, Myoclonus, Bilateral tonic-clonic seizure ORPHA:139406
Gómez-López-Hernández Syndrome
Short stature, Abnormal brainstem morphology, Hydrocephalus, Ataxia ORPHA:1532
Spinocerebellar Ataxia Type 37
Falls, Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Gait disturbance, Truncal ataxia, Dy... ORPHA:363710
Sarcosinemia
Ataxia, Optic atrophy, Bilateral tonic-clonic seizure, Tetraparesis ORPHA:3129
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Polymicrogyria, Inability to walk, Myoclonu... OMIM:618877
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Microphthalmia-Brain Atrophy Syndrome
Spasticity, Lateral ventricle dilatation, Focal hyperkinetic seizure, Generalized-onset seizure, ... ORPHA:77299
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Polymicrogyria, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Abnormal cerebral white matter morphology, Seizure, Ataxia OMIM:618951
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Tongue fasciculations, CNS hypomyelination, Seizure, Cataplexy, Secondary microcep... OMIM:617193
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, CNS hypomyelination, Focal myoclonic seizure, Seizure, Hypoplasia of the brainstem, D... ORPHA:481152
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Cerebral calcification, Myoclonus, Tremor, Microcephaly, Hypertonia, Dystonia, Choreoath... OMIM:261630
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Difficulty walking, Chorea, Cerebral white matter atrophy, Microcephaly, Bilateral tonic-clonic s... ORPHA:369840
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Diffuse white matter abnormalities, Occipital encephalocele, Hypoplasia of the pon... ORPHA:370959
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Hypointensity of cerebral white matter on MRI, Seizure precipitated by f... ORPHA:363549
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Microcephaly, Bilateral tonic-clonic seizu... OMIM:617935
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Symmetric lesions of the basal ganglia, Tremor, Rigidity, Gait dist... OMIM:609161
Jaberi-Elahi Syndrome
Optic atrophy, Broad-based gait, Inability to walk, Gait ataxia, Dysmetria, Appendicular spastici... OMIM:617988
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, Cerebral atrophy, Inabil... ORPHA:168491
Aminoacylase 1 Deficiency
Cerebral cortical atrophy, Cerebral atrophy, Seizure, Delayed CNS myelination, Bilateral tonic-cl... OMIM:609924
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bilateral tonic-... ORPHA:352582
Pontocerebellar Hypoplasia, Type 3
Optic atrophy, Spasticity, Reduced cerebral white matter volume, Hypoplasia of the pons, Seizure,... OMIM:608027
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Spasticity, Involuntary movements, Microcephaly, Limb hypertonia, Abnormal cerebral white matter ... OMIM:615905
Spinocerebellar Ataxia Type 12
Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism,... ORPHA:98762
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Difficulty walking, Motor axonal neuropathy, Abnormal myelination, Tongue tremor, Mixed demyelina... ORPHA:466768
Benign Familial Neonatal-Infantile Seizures
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... ORPHA:140927
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Irregular myelin ... OMIM:601382
Alzheimer Disease 3
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Spastic tetraparesis, Myoclonus, Abn... OMIM:607822
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency
Gait ataxia, Dysmetria, Agenesis of corpus callosum, Clumsiness, Babinski sign, Oculomotor apraxi... ORPHA:453521
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... ORPHA:79137
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Spasticity, Seizure, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Mic... OMIM:614833
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Spasticity, Generalized dystonia, Inability to walk, Partial agenesis of the corpus callosum, Dys... OMIM:619653
Behr Syndrome
Optic atrophy, Sensory axonal neuropathy, Hypoplastic optic chiasm, Periventricular leukomalacia,... OMIM:210000
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Optic atrophy, Spasticity, Pigmentary retinopathy, Seizure, Chorea, Infantile spasms, Gai... ORPHA:255210
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degeneration, Loss of ambulation, Peripheral axo... OMIM:208920
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Intrauterine growth retardation, Hypoplasia of the corpus callosum, Babinski sign, Clonus, Limb h... ORPHA:423479
Caribbean Parkinsonism
Cerebral cortical atrophy, T2 hypointense basal ganglia, Midline brain calcifications, Autonomic ... ORPHA:97355
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Inability to walk, Microcephaly, Tonic seizure, Focal emotional se... OMIM:619881
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation, Deep white matter hypodensities, Hypoplasia of the corpus callosum,... ORPHA:565624
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Spasticity, Reduced cerebral white matter volume, Seizure, Cerebral palsy, Chorea, Babinski sign,... OMIM:618451
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Cerebral calcification, Gait ataxia... ORPHA:101110
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Progressive spastic paraplegia, Difficulty walking, Decreased number of peripheral... ORPHA:320406
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Unilateral Focal Polymicrogyria
Seizure, Abnormality of somatosensory evoked potentials, Intracerebral periventricular calcificat... ORPHA:268947
Xeroderma Pigmentosum, Complementation Group G
Spasticity, Infantile spasms, Tremor, Microcephaly, Ataxia, Growth delay OMIM:278780
Sulfite Oxidase Deficiency, Isolated
Ataxia, Generalized dystonia, Cerebral atrophy, Hemiplegia, Microcephaly, Hyperintensity of cereb... OMIM:272300
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, Myoclonus, Atrophy/Degeneration affecting the brainstem, Ataxia, Cortic... OMIM:619971
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral cortical atrophy, Spasticity, Seizure, Cerebral atrophy, Generalized-onset seizure, Chor... ORPHA:79263
Intellectual Developmental Disorder, Autosomal Dominant 74
Typical absence seizure, Intrauterine growth retardation, Microcephaly, Delayed CNS myelination, ... OMIM:620688
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Developmental And Epileptic Encephalopathy 106
Postnatal growth retardation, Focal clonic seizure, Infantile spasms, Microcephaly, Tonic seizure... OMIM:620028
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Spasticity, Spastic tetraplegia, Cerebral hypoplasia, Abnormal cortical gyration, Generalized non... ORPHA:79351
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Gait ataxia, Intention tremor, Dy... OMIM:614381
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Aicardi-Goutieres Syndrome 6
Leukodystrophy, Intrauterine growth retardation, Cerebral calcification, Tremor, Rigidity, Loss o... OMIM:615010
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Leukoencephalopathy, Optic atrophy, Pigmentary retinopathy, Abnormality of macular pigmentation, ... ORPHA:79282
Autosomal Recessive Cutis Laxa Type 2A
Spasticity, Seizure, Generalized-onset seizure, Postnatal growth retardation, Intrauterine growth... ORPHA:357058
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Secondary microcephaly, Seizure, Atonic seizure OMIM:309530
X-Linked Cerebral Adrenoleukodystrophy
Myelopathy, Limb myoclonus, Seizure, Difficulty walking, Inability to walk, Abnormal brainstem wh... ORPHA:139396
Peho Syndrome
Optic atrophy, Seizure, Polymicrogyria, Peripheral dysmyelination, Myoclonus, Hypoplasia of the c... OMIM:260565
Pontocerebellar Hypoplasia, Type 11
Spasticity, Broad-based gait, Hypoplasia of the pons, Seizure, Difficulty walking, Inability to w... OMIM:617695
Developmental And Epileptic Encephalopathy 5
Cerebral cortical atrophy, Reduced cerebral white matter volume, CNS hypomyelination, Seizure, Ce... OMIM:613477
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Seizure, Cerebral atrophy, Retinopathy, Tremor, Posterior atrophy of corpus callos... OMIM:619422
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Babinski sign, Oculomotor apraxia, Abnorm... OMIM:608703
Giant Axonal Neuropathy 1, Autosomal Recessive
Spastic paraplegia, Sensory axonal neuropathy, Lateral ventricle dilatation, Motor axonal neuropa... OMIM:256850
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Leukoencephalopathy, Optic atrophy, Athetosis, Seizure, Cerebral atrophy, Intrauterine growth ret... OMIM:617710
Developmental And Epileptic Encephalopathy 49
Optic atrophy, Spasticity, Myoclonic seizure, Spastic tetraplegia, Facial-lingual fasciculations,... OMIM:617281
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Axonal loss, Steppage gait, Onion bulb formation OMIM:614455
Developmental And Epileptic Encephalopathy 66
Broad-based gait, Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generali... OMIM:618067
Fatty Acid Hydroxylase-Associated Neurodegeneration
Optic atrophy, Falls, Generalized dystonia, Progressive spastic paraplegia, Progressive spastic p... ORPHA:329308
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Broad-based gait, Lateral ventricle dilatation, Seizure, Secondary microcephaly, Inab... OMIM:617854
Spinocerebellar Ataxia 7
Optic atrophy, Spasticity, Macular degeneration, Pigmentary retinopathy, Chorea, Dysmetria, Tremo... OMIM:164500
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Broad-based gait, Decreased motor nerve conduction velocity, Inability to walk, Axonal degenerati... OMIM:615490
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spasticity, Pseudobulbar paralysis, Hemiparesis, Rigidity, Diffuse cerebral atrophy, Spastic atax... ORPHA:199354
Cach Syndrome
Optic atrophy, Spasticity, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Intrauterine ... ORPHA:135
Parkinson Disease 2, Autosomal Recessive Juvenile
Shuffling gait, Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel ... OMIM:600116
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Bilateral Polymicrogyria
Aplasia/Hypoplasia of the cerebral white matter, Aplasia/Hypoplasia of the brainstem, Seizure, Ps... ORPHA:268940
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Microcephaly, Bilateral tonic-clon... OMIM:613970
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Myoclonic seizure, CNS hypomyelination, Focal impaired awareness seizure, Inability to walk, Epil... OMIM:619580
Spinocerebellar Ataxia 18
Sensory axonal neuropathy, Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadocho... OMIM:607458
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Spasticity, Seizure, Generalized non-motor (absence) seizure, Secondary microcephaly, Hypoplasia ... OMIM:616281
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Involuntary movements, Progressive extrapyramidal movement disorder, Resting tremo... ORPHA:401768
Autosomal Dominant Spastic Ataxia Type 1
Spastic paraplegia, Difficulty walking, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower... ORPHA:251282
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Secondary microcephaly, Myoclonus, Tonic seizure, Bilateral tonic-clonic seizu... OMIM:617290
Behavioral Variant Of Frontotemporal Dementia
Frontotemporal cerebral atrophy, Fasciculations, Abnormality of extrapyramidal motor function, Ga... ORPHA:275864
Phenylketonuria
Seizure, Tremor, Microcephaly, Lower limb spasticity, Abnormal cerebral white matter morphology, ... ORPHA:716
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Reduced cerebral white matter volume, Generalized dystonia, Cerebral atrophy, Hypopla... OMIM:618235
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure, Pachygyria OMIM:600176
Molybdenum Cofactor Deficiency, Type A
Seizure, Cerebral atrophy, Peripheral demyelination, Hypoplasia of the corpus callosum, Opisthoto... OMIM:252150
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Seizure, Polymicrogyria, Inability to walk, Limb hypertonia, Bilateral tonic-clonic... ORPHA:488613
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Difficulty walking, Abnormal motor nerve conduction velocity, Tremor, Vocal c... OMIM:158580
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Tremor, Hyperkinetic movements, Microcephaly, Gait disturbance, Bilateral tonic-clonic s... ORPHA:457240
Lopes-Maciel-Rodan Syndrome
Spasticity, Seizure, Cerebral atrophy, Tremor, Ankle clonus, Dystonia, Caudate atrophy, Abnormal ... OMIM:617435
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Optic atrophy, Spastic paraparesis, Seizure, Generalized non-motor (absence) seizure, Abnormal pe... ORPHA:395
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Bilateral tonic-clonic seizure with generaliz... OMIM:619028
Hereditary Methemoglobinemia
Spasticity, Temporal cortical atrophy, Seizure, Small basal ganglia, Limb dystonia, Microcephaly,... ORPHA:621
Alpha-Methylacyl-Coa Racemase Deficiency
Spasticity, Pigmentary retinopathy, Seizure, Focal-onset seizure, Intention tremor, Hemiparesis, ... OMIM:614307
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Seizure, Febrile... ORPHA:206443
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Abnormal myelination, Progressive spastic paraplegia, Hand tremor ORPHA:401835
Canavan Disease
Optic atrophy, Epileptic spasm, Opisthotonus, Microcephaly, Abnormal pyramidal sign, CNS demyelin... OMIM:271900
Myopathy With Extrapyramidal Signs
Optic atrophy, Seizure, Frequent falls, Difficulty walking, Chorea, Tremor, Abnormality of extrap... OMIM:615673
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Warburg Micro Syndrome 3
Optic atrophy, Cerebral cortical atrophy, Myoclonic seizure, Polymicrogyria, Secondary microcepha... OMIM:614222
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Hypoplasia of the corpus call... OMIM:610185
D-Glyceric Aciduria
Cerebral cortical atrophy, Spasticity, Spastic tetraplegia, Seizure, Focal clonic seizure, Myoclo... OMIM:220120
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, To... OMIM:619862
Spinocerebellar Ataxia, Autosomal Recessive 13
Seizure, Inability to walk, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Shor... OMIM:614831
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Seizure, Myoclonus, Tremor, Focal T2 hypointense basal ganglia lesion, Abnormal pyramidal sign, D... ORPHA:139485
Neuronal Intranuclear Inclusion Disease
Leukoencephalopathy, Decreased motor nerve conduction velocity, Seizure, Tremor, Rigidity, Gait d... OMIM:603472
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased amplitude of sensory action potentials, Decreased nerve conduction velocity, Gait ataxi... ORPHA:90103
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Cerebral cortical atrophy, Broad-based gait, Difficulty walking, Dysmetria, Loss of ambulation, B... OMIM:616479
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Atypical Juvenile Parkinsonism
Short stepped shuffling gait, Involuntary movements, Shuffling gait, Resting tremor, Seizure, Ina... ORPHA:391411
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spastic Ataxia 2, Autosomal Recessive
Spasticity, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babin... OMIM:611302
Lower Motor Neuron Syndrome With Late-Adult Onset
Tongue fasciculations, Fasciculations, Inability to walk, Abnormal sensory nerve conduction veloc... ORPHA:276435
Alfadhel Syndrome
Spastic paraplegia, Seizure, Microcephaly, Delayed CNS myelination, Bilateral tonic-clonic seizur... OMIM:620655
Spinocerebellar Ataxia, Autosomal Recessive 16
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait OMIM:615768
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Basal Ganglia Disease, Biotin-Thiamine Responsive
Truncal titubation, Seizure, Tetraparesis, Inability to walk, Chorea, Abnormal basal ganglia morp... OMIM:607483
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo... OMIM:616366
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome