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Gene: Slc17a5 MGI:1924105

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Optic atrophy, Involuntary movements, Focal impaired awareness seizure, Seizure, Incoordination, ... ORPHA:480864
Intellectual Developmental Disorder, X-Linked 30
Seizure, Generalized non-motor (absence) seizure, Clumsiness, Microcephaly, Hydrocephalus, Bilate... OMIM:300558
Japanese Encephalitis
Opisthotonus, Paucity of anterior horn motor neurons, Cerebral edema, Focal motor seizure, Choreo... ORPHA:79139
Developmental And Epileptic Encephalopathy 90
Cerebral atrophy, Focal-onset seizure, Ankle clonus, Babinski sign, Limb hypertonia, Bilateral to... OMIM:301058
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Spasticity, Seizure, Abnormal brainstem morphology, Myoclonus, Hemiplegia/hemipare... ORPHA:79279
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, Bilateral tonic-clonic seizure OMIM:619000
Neurodegeneration With Brain Iron Accumulation 2B
Optic atrophy, Spasticity, Neurofibrillary tangles, Seizure, Cerebral atrophy, Chorea, Gait ataxi... OMIM:610217
Sandhoff Disease, Infantile Form
Cerebral cortical atrophy, Spasticity, Myoclonic seizure, CNS hypomyelination, Seizure, Cherry re... ORPHA:309155
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Spasticity, Cerebral cortical atrophy, Cataplexy, Febrile seizure (within the age ... ORPHA:496641
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... OMIM:314250
Familial Acute Necrotizing Encephalopathy
Spasticity, Seizure, Abnormal brainstem morphology, Rigidity, Abnormal putamen morphology, Gait d... ORPHA:88619
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy, Hypoplasia of the... OMIM:615802
Pyruvate Dehydrogenase E1-Beta Deficiency
Corticospinal tract hypoplasia, Seizure, Hypoplasia of the brainstem, Periventricular cysts, Intr... ORPHA:255138
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Neuromuscular Oculoauditory Syndrome
Sensory axonal neuropathy, Retinal pigment epithelial mottling, Decreased amplitude of sensory ac... OMIM:618733
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Migraine, Familial Hemiplegic, 2
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia, Bilateral toni... OMIM:602481
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal corpus callosum morphology, Optic atrophy, Spasticity, Abnormal mitochondrial shape, Sei... ORPHA:543470
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies
Seizure, Inability to walk, Tremor, Microcephaly, Delayed CNS myelination, Hypertonia, Ataxia OMIM:619556
East Syndrome
Seizure, Generalized-onset seizure, Difficulty walking, Inability to walk, Action tremor, Periphe... ORPHA:199343
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosu... OMIM:618010
Spinocerebellar Ataxia Type 14
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia ORPHA:98763
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... OMIM:607876
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
D-2-Hydroxyglutaric Aciduria 1
Myoclonic seizure, Lateral ventricle dilatation, Seizure, Infantile spasms, Tonic seizure, Delaye... OMIM:600721
Inherited Creutzfeldt-Jakob Disease
Progressive cerebellar ataxia, Diffuse spongiform leukoencephalopathy, Seizure, Amyloidosis of pe... ORPHA:282166
Riboflavin Transporter Deficiency
Cerebral cortical atrophy, Abnormality of macular pigmentation, Seizure, Myoclonus, Abnormal cran... ORPHA:97229
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Spastic paraparesis, Resting tremor, Cerebral atrophy, Incoordination,... OMIM:615157
Charcot-Marie-Tooth Disease Type 1F
Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Fas... ORPHA:101085
Houge-Janssens Syndrome 3
Generalized non-motor (absence) seizure, Hypoplasia of the brainstem, Focal-onset seizure, Hypopl... OMIM:618354
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Secondary ... ORPHA:500144
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Basal ganglia calcification, Myoclonus, Gait ataxia, Dysmetria, Tremor, Peripheral... OMIM:616505
Neuropathy, Hereditary Sensory, Type Ie
Ataxia, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers OMIM:614116
Febrile Seizures, Familial, 11
Hippocampal atrophy, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile se... OMIM:614418
Microhydranencephaly
Hydranencephaly, Generalized myoclonic seizure, Hypoplasia of the brainstem, Pachygyria, Agenesis... OMIM:605013
Dentatorubral Pallidoluysian Atrophy
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action... ORPHA:101
Spinocerebellar Ataxia, Autosomal Recessive 2
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia, Short stature, U... OMIM:213200
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Pelizaeus-Merzbacher Disease, Connatal Form
Pachygyria, Difficulty walking, Inability to walk, Dystonic gait, Cerebral hypomyelination, Lower... ORPHA:280210
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Broad-based gait, Leukodystrophy, Chorioretinal coloboma, Peripheral demyelination, P... OMIM:619475
Hypermanganesemia With Dystonia 2
Spasticity, Secondary microcephaly, Limb dystonia, Opisthotonus, Parkinsonism, Bradykinesia, Tip-... OMIM:617013
Combined Oxidative Phosphorylation Defect Type 29
Retinopathy, Axonal degeneration, Optic neuropathy, Bilateral tonic-clonic seizure, Myoclonic spa... ORPHA:478029
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Peripheral axonal neuropathy, Tremor, Ataxia OMIM:619099
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Epilepsia partialis continua, Difficulty walking, Myoclonus, Gait ataxia, Appendic... OMIM:620451
Tangier Disease
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia OMIM:205400
Ethylmalonic Encephalopathy
Retinal vascular tortuosity, Seizure, Abnormality of extrapyramidal motor function, Abnormal pyra... ORPHA:51188
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Seizure, Incoordination, Tremor, Pontocerebellar atrophy, Hypoplasia of the corpus callosum, Abno... OMIM:618060
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Spasticity, Lateral ventricle dilatation, Basal ganglia calcification, Cerebral calcification, Re... OMIM:620371
Spinocerebellar Ataxia Type 17
Blepharospasm, Spasticity, Involuntary movements, Chorea, Rigidity, Parkinsonism, Abnormal pyrami... ORPHA:98759
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait OMIM:617917
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Lateral ventricle dilatation, Seizure, Difficulty walking, Gait imbala... ORPHA:488627
Dworschak-Punetha Neurodevelopmental Syndrome
Optic disc hypoplasia, Seizure, Agenesis of corpus callosum, Dysplastic corpus callosum, Peripher... OMIM:619955
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Cerebral cortical atrophy, Spasticity, Seizure, Generalized non-motor (absence) seizure, Inabilit... ORPHA:457351
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Cerebral atrophy, Tetraparesis, Secondary microcephaly, Chorea, Myoclo... OMIM:616672
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Generalized dystonia, Eye of the tiger anomaly of globus pallidus, Lew... OMIM:614298
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Focal impaired awareness seizure, Seizure, Febrile seizure (within the age range of 3 months to 6... OMIM:620292
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Cerebral palsy, Seizure, Hypoplasia of the brainstem, Appendicular spasticity, Dysplastic corpus ... OMIM:620001
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Episodic ataxia, Cerebral atrophy, Myoclonus, Tremor, Agenesis of corpus callosum, Basal... OMIM:312170
Slc35A2-Cdg
Abnormal midbrain morphology, Lateral ventricle dilatation, Seizure, Cerebral atrophy, Inability ... ORPHA:356961
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Eye of the tiger anomaly of g... ORPHA:157846
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Pyruvate Dehydrogenase Deficiency
Spasticity, Seizure, Cerebral palsy, Aplasia/Hypoplasia of the corpus callosum, Intrauterine grow... ORPHA:765
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
De Sanctis-Cacchione Syndrome
Severe short stature, Optic atrophy, Spasticity, Leukodystrophy, Cerebral atrophy, Basal ganglia ... OMIM:278800
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Optic atrophy, Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Hypoplastic optic chia... OMIM:617669
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Cerebral calcification, Hypoplasia of the corpus callosum, Neonatal death, CNS demyelination, Spa... OMIM:620024
Lafora Disease
Ataxia, Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Generalized ... ORPHA:501
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Seizure, Lateral ventricle dilatation, Cogwheel ... ORPHA:363654
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Abnormal brainstem morphology, Elongated superior cerebellar peduncle, Head titubation, Oculomoto... ORPHA:370022
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Microcephaly, Bilateral tonic-clonic seizure w... OMIM:619092
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Seizure, Generalized-onset seizure, Microcephaly, Bilateral tonic-clonic seizure, Pachygyria, Bra... OMIM:619827
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure, Pachygyria ORPHA:329329
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Abnormal basal ganglia MRI signal intensity, Seizure, Abnormal brainstem morphology, Intrauterine... OMIM:301310
Spinocerebellar Ataxia Type 27
Sensory axonal neuropathy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, T... ORPHA:98764
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism... ORPHA:306669
Early Infantile Epileptic Encephalopathy
Spasticity, Hypoplasia of the corpus callosum, Choreoathetosis, Generalized non-motor (absence) s... ORPHA:1934
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Tremor, Paraparesis, Gait disturbance, Ataxia ORPHA:99014
Systemic Primary Carnitine Deficiency
Clumsiness, Bilateral tonic-clonic seizure with focal onset ORPHA:158
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Fascicul... ORPHA:65684
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Hypoplasia of the corpus callosum, Focal white ma... ORPHA:320375
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Athetosis, Seizure, Hypoplasia of the brainstem, Lateral ventricle dilatatio... ORPHA:572798
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spasticity, Lateral ventricle dilatation, Type II lissencephaly, Postnatal growth retardation, Ab... ORPHA:300570
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Seizure, Infantile spasms, Hypoplasia of the corpus callosum, Microcephaly, Bilateral... ORPHA:544503
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Axonal regeneration, Decreased motor nerve conduction velocity, Decreased number of peripheral my... OMIM:607831
Glut1 Deficiency Syndrome 2
Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis OMIM:612126
Glutaryl-Coa Dehydrogenase Deficiency
Poor motor coordination, T2 hypointense basal ganglia, Open operculum, Seizure, Chorea, Infantile... ORPHA:25
Gerstmann-Straussler Disease
Spasticity, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parki... OMIM:137440
Amish Lethal Microcephaly
Optic atrophy, Agenesis of corpus callosum, Microcephaly, Limb hypertonia, Spina bifida, Bilatera... ORPHA:99742
Parkinsonism-Dystonia 2, Infantile-Onset
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervo... OMIM:618049
Dystonia 12
Bradykinesia, Tremor, Parkinsonism, Torticollis, Unsteady gait, Dystonia OMIM:128235
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Spastic paraplegia, Seizure, Myoclonus, Peripheral axonal neuropathy, Babinski sign, Abnormal pyr... OMIM:620538
Hyperphenylalaninemia, Bh4-Deficient, A
Seizure, Tremor, Rigidity, Dystonia, Microcephaly, Parkinsonism, Limb hypertonia, Hypertonia, Ata... OMIM:261640
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Spasticity, Spastic paraplegia, Seizure, Basal ganglia calcification, Abnormal per... ORPHA:98673
Weiss-Kruszka Syndrome
Dysplastic corpus callosum ORPHA:502430
Joubert Syndrome 33
Cone/cone-rod dystrophy, Oculomotor apraxia, Delayed CNS myelination, Molar tooth sign on MRI, At... OMIM:617767
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Developmental And Epileptic Encephalopathy 31B
Optic atrophy, Involuntary movements, Myoclonic seizure, Reduced cerebral white matter volume, Se... OMIM:620352
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonus, Intention tremor, Clonic sei... OMIM:610539
Trigeminal Neuralgia
Peripheral demyelination, CNS demyelination, Cranial nerve compression ORPHA:221091
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Seizure, Cerebral atrophy, Eye of the tiger anomaly of globus pallidus, Akin... OMIM:300894
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Parkinson Disease 23, Autosomal Recessive Early-Onset
Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Akinesia, Limb dy... OMIM:616840
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Tremor, Hypertonia, Ataxia, Short stature ORPHA:1368
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Limb dys... ORPHA:363400
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... ORPHA:240103
Asparagine Synthetase Deficiency
Hypoplasia of the pons, Hypoplasia of the corpus callosum, Clonus, Spastic tetraplegia, Clonic se... OMIM:615574
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Tremor, Parkinsonism, Lower limb spast... ORPHA:3077
Cockayne Syndrome A
Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pigment epith... OMIM:216400
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Hypoplasia of the corpus callosum, Bilateral tonic-clonic seizure, Intentio... OMIM:618381
Combined Oxidative Phosphorylation Deficiency 53
Spasticity, CNS hypomyelination, Seizure, Secondary microcephaly, Dysplastic corpus callosum, Sho... OMIM:619423
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Seizure, Akinesia, Myoclonus, Tremor, Rigidity, Dystonia, Babinsk... OMIM:606693
Cataracts, Spastic Paraparesis, And Speech Delay
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... OMIM:619338
Leigh Syndrome
Spasticity, Neuronal loss in basal ganglia, Leukodystrophy, Hypoplasia of the corpus callosum, Ag... ORPHA:506
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Brainstem dysplasia, Encephaloc... OMIM:611560
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:618856
Mohr-Tranebjaerg Syndrome
Optic atrophy, Shuffling gait, Generalized dystonia, Abnormality of somatosensory evoked potentia... ORPHA:52368
Developmental And Epileptic Encephalopathy 8
Hypoplasia of the frontal lobes, Tonic seizure, Frontal polymicrogyria, Hypertonia, Bilateral ton... OMIM:300607
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Cessation of head growth, Broad-based gait, Seizure, Secondary microcephaly, Gait imbalance, Bila... ORPHA:98795
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Spasticity, Seizure, Absent septum pellucidum, Hemiplegia/hemiparesis, Agenesis of corpus callosu... ORPHA:2182
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Shuffling gait, Resting tremor, Seizure, Tremor, Dystoni... OMIM:300055
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Tremor, Steppage gait, Gait disturbance, Axonal loss OMIM:118300
Alexander Disease Type Ii
Spasticity, Spastic paraparesis, Abnormal medulla oblongata morphology, Periventricular cysts, Ab... ORPHA:363722
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Spasticity, Seizure, Inability to walk, Tremor, Microcephaly, Dystonia, Choreoathe... OMIM:617664
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy,... OMIM:616973
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Spontaneous Periodic Hypothermia
Seizure, Aplasia/Hypoplasia of the corpus callosum, Tremor, Gait disturbance, Ataxia ORPHA:29822
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Arm dystonia, Sensory axonal neuropathy, Fasciculations, Dysmetria, Ankle clonus, Chr... ORPHA:88644
Developmental And Epileptic Encephalopathy 95
Cerebral cortical atrophy, Hypoplasia of the pons, Seizure, Cerebral atrophy, Inability to walk, ... OMIM:618143
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Gait di... OMIM:617145
Sandhoff Disease
Spasticity, Myoclonic seizure, CNS hypomyelination, Fasciculations, Cherry red spot of the macula... OMIM:268800
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Tongue fasciculations, Decreased motor nerve conduction velocity, Hand tremor, Chronic axonal neu... OMIM:162400
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Seizure, Tremor, Rigidity, Dystonia, Microcephaly, Limb hypert... ORPHA:70594
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Gait imbalance, Bilateral tonic-clonic seizure OMIM:618120
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
3-Methylglutaconic Aciduria, Type Viia
Myoclonic seizure, Generalized-onset seizure, Secondary microcephaly, Abnormal periventricular wh... OMIM:619835
Melas
Optic atrophy, Aplasia/Hypoplasia of the cerebral white matter, Cerebral cortical atrophy, Pigmen... ORPHA:550
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome
Cerebral atrophy, Gait ataxia, Babinski sign, Atrophy/Degeneration affecting the brainstem, Demye... ORPHA:445062
Syngap1-Related Developmental And Epileptic Encephalopathy
Myoclonic absence seizure, Generalized-onset seizure, Eating-induced seizure, Tremor, Microcephal... ORPHA:544254
Molybdenum Cofactor Deficiency, Type C
Hypoplasia of the pons, Polymicrogyria, Generalized-onset seizure, Neonatal death, Limb hypertoni... OMIM:615501
Joubert Syndrome With Renal Defect
Seizure, Polymicrogyria, Encephalocele, Tremor, Agenesis of corpus callosum, Aganglionic megacolo... ORPHA:220497
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral cortical atrophy, Tremor, Photosensitive myoclonic seizure, Gait disturbance, Hypertonia... ORPHA:1192
Joubert Syndrome With Ocular Defect
Seizure, Polymicrogyria, Retinal coloboma, Encephalocele, Tremor, Agenesis of corpus callosum, Ag... ORPHA:220493
Acute Disseminated Encephalomyelitis
Diffuse white matter abnormalities, Involuntary movements, Seizure, Abnormal basal ganglia morpho... ORPHA:83597
Intellectual Developmental Disorder, X-Linked 12
Spasticity, Seizure, Tremor, Hyperkinetic movements, Microcephaly, Gait disturbance, Abnormal cer... OMIM:300957
Early-Onset Autosomal Dominant Alzheimer Disease
Cerebral cortical atrophy, Neurofibrillary tangles, Seizure, Myoclonus, Parkinsonism, Oculomotor ... ORPHA:1020
Cockayne Syndrome B
Severe short stature, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials,... OMIM:133540
Ritscher-Schinzel Syndrome 4
Chorea, Agenesis of corpus callosum, Bilateral tonic-clonic seizure, Ataxia, Short stature, Athet... OMIM:619435
Developmental And Epileptic Encephalopathy 100
Myoclonic seizure, Typical absence seizure, Seizure, Febrile seizure (within the age range of 3 m... OMIM:619777
X-Linked Dystonia-Parkinsonism
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Progressive extrapyramidal muscular r... ORPHA:53351
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Hypertonia, Foc... OMIM:619854
Leukoencephalopathy With Ataxia
Leukoencephalopathy, Choroidal neovascularization, Limb ataxia, Gait ataxia, Action tremor, Chori... OMIM:615651
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Vocal cord paresis, Facial paralysis, Abnormal optic nerve ... ORPHA:99949
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins... OMIM:616586
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Abnorma... ORPHA:168563
Gm2 Gangliosidosis, Ab Variant
Punctate periventricular T2 hyperintense foci, Seizure, Cerebral atrophy, Cherry red spot of the ... ORPHA:309246
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Seizure, Incoordination, Tremor, Microcephaly, Abnormal pyramidal sign, Abnormal c... OMIM:614947
Glutathionuria
Dysdiadochokinesis, Action tremor, Tremor, Agenesis of corpus callosum OMIM:231950
1Q44 Microdeletion Syndrome
Optic disc hypoplasia, Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Bilateral tonic-... ORPHA:238769
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Leukoencephalopathy, Optic atrophy, Spasticity, Seizure, Leukodystrophy, Postnatal growth retarda... OMIM:612199
Myoclonic-Astatic Epilepsy
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tremor, Mic... ORPHA:1942
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Cerebral atrophy, Seizure, Small basal ganglia, Abnormal periventricular white matter morphology,... OMIM:616900
Adult-Onset Autosomal Dominant Leukodystrophy
Spasticity, Tetraparesis, Aplasia/Hypoplasia of the corpus callosum, Autonomic bladder dysfunctio... ORPHA:99027
Joubert Syndrome 2
Abnormal corpus callosum morphology, Seizure, Optic disc coloboma, Hypoplasia of the brainstem, C... OMIM:608091
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Seizure, Spastic tetraparesis, Hypoplasia of the corpus callosum, Agenesis o... OMIM:614924
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the ... OMIM:614207
Choreoacanthocytosis
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Loss of ambulation, Peripheral axona... ORPHA:2388
Saccharopinuria
Seizure, Gait ataxia, Tremor, Short stature, Spastic diplegia ORPHA:3124
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Seizure, Generalized-onset seizure, Partial agenesis of the corpus callosum, Peripher... OMIM:220111
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Abnormal cerebral cortex morphology, Seizure, Chorioretinal coloboma, Abnormal brainstem morpholo... ORPHA:163961
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:615637
Brain Dopamine-Serotonin Vesicular Transport Disease
Shuffling gait, Oculogyric crisis, Secondary microcephaly, Abnormality of coordination, Limb dyst... ORPHA:352649
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Spasticity, Myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Thin corpus callosu... OMIM:619983
Myoclonic Epilepsy Of Lafora 1
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... OMIM:254780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
CNS hypomyelination, Seizure, Cerebral atrophy, Difficulty walking, Speech apraxia, Intrauterine ... OMIM:615356
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Spasticity, Seizure, Inability to walk, Tremor, Microcephaly OMIM:618718
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Diffuse cerebral atrophy, Oc... ORPHA:1170
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Tay-Sachs Disease
Cherry red spot of the macula, Incoordination, Poor fine motor coordination, Inability to walk, D... ORPHA:845
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Stillbirth OMIM:617468
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Reduced cerebral white matter volume, Seizure, Intrauterine growth retardation, Microcephaly, Thi... OMIM:617333
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Freezin... ORPHA:99750
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Spasticity, Seizure, Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy OMIM:618810
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Dk1-Cdg
Seizure, Infantile spasms, Progressive microcephaly, Bilateral tonic-clonic seizure, Short statur... ORPHA:91131
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Cavitation of the basal ganglia, Laryngeal dystonia, Chorea, Tremor, R... OMIM:606159
Intellectual Developmental Disorder, Autosomal Dominant 53
Involuntary movements, Generalized non-motor (absence) seizure, Febrile seizure (within the age r... OMIM:617798
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia, Intrauterine growth retardation ORPHA:444051
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hydranencephaly, Seizure, Hypoplasia of the brainstem, Polymicrogyria, Intrauterine growth retard... OMIM:225790
Intellectual Developmental Disorder, Autosomal Dominant 45
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Chorea, Myoclonus, Bi... OMIM:617600
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Microcephaly, Rod-co... OMIM:300578
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Tip-toe gait, Difficulty walking, Inability to walk, Tremor, Decreased distal sens... ORPHA:99956
Waisman Syndrome
Shuffling gait, Resting tremor, Seizure, Cogwheel rigidity, Lewy bodies, Rigidity, Parkinsonism, ... OMIM:311510
Oculocerebral Hypopigmentation Syndrome, Preus Type
Seizure, Ocular albinism, Abnormal brainstem morphology, Hydrocephalus, Hypertonia, Ataxia, Short... ORPHA:2720
Biotinidase Deficiency
Optic atrophy, Spastic paraparesis, Myelopathy, Seizure, Infantile spasms, Bilateral tonic-clonic... ORPHA:79241
Primary Dystonia, Dyt2 Type
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... ORPHA:99657
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Abnormal corpus callosum morphology, Hypoplasia of the pons, Abnorm... ORPHA:280195
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Spastic paraplegia, Lateral ventricle dilatation, Cerebral atrophy, Tip-toe gait, Optic nerve dys... OMIM:617296
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Seizure, Myoclonus, Hypoplasia of the corpus callosum, Babinski sign, Bilateral tonic... ORPHA:364028
Peroxisome Biogenesis Disorder 5B
Tremor, Dysmetria, Oculomotor apraxia, Rod-cone dystrophy, Ataxia, Unsteady gait, Retinal dystrophy OMIM:614867
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof... ORPHA:199351
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramida... ORPHA:96
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Frontotemporal cerebral atrophy, Pill-rolling tremor, Res... OMIM:612953
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Seizure, Intention tremor, Peripheral hypomyelination, Chronic axonal neuropathy, Ataxia, Short s... OMIM:612780
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Myoclonus, Aganglionic megacolon, Cerebral hypomyelination, Oculomotor apraxia, Gait dis... ORPHA:247262
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Leukodystrophy, Polymicrogyria, Abnormal brainstem morphology, Hypoplasia of the corpus callosum,... ORPHA:370997
Developmental And Epileptic Encephalopathy 18
Generalized non-motor (absence) seizure, Generalized-onset seizure, Focal-onset seizure, Tonic se... OMIM:615476
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Bilateral tonic-clonic seizure, Hemiparesis OMIM:540000
Microcephaly 26, Primary, Autosomal Dominant
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Pachygyria, Hypoplasia of... OMIM:619179
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Delayed CNS myelination, Bilateral tonic-clonic seizure OMIM:618832
Developmental And Epileptic Encephalopathy 111
Convulsive status epilepticus, Hypoplasia of the pons, Polymicrogyria, Infantile spasms, Bilatera... OMIM:620504
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Myoclonic seizure, Hypoplasia of the pons, Agenesis of corpus callosum, Microcepha... OMIM:619512
Parkinsonism-Dystonia 3, Childhood-Onset
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia... OMIM:619738
Pitt-Hopkins-Like Syndrome 1
Spasticity, Focal cortical dysplasia, Status epilepticus, Generalized-onset seizure, Bilateral to... OMIM:610042
Angelman Syndrome
Ataxia, Optic atrophy, Cerebral cortical atrophy, Broad-based gait, Seizure, Status epilepticus, ... ORPHA:72
Nivelon-Nivelon-Mabille Syndrome
Severe short stature, Optic disc coloboma, Microcephaly, Bilateral tonic-clonic seizure, Thin cor... OMIM:600092
New-Onset Refractory Status Epilepticus
Focal aware motor seizure, Focal autonomic seizure, Abnormal basal ganglia MRI signal intensity, ... ORPHA:363558
Sialidosis Type 1
Seizure, Cherry red spot of the macula, Decreased nerve conduction velocity, Myoclonus, Retinopat... ORPHA:812
Coenzyme Q10 Deficiency, Primary, 3
Focal T2 hyperintense basal ganglia lesion, Bilateral tonic-clonic seizure with focal onset, Foca... OMIM:614652
Spinocerebellar Ataxia 42
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait, Unsteady gait OMIM:616795
Hermansky-Pudlak Syndrome 10
Focal myoclonic seizure, Cerebral atrophy, Ocular albinism, Microcephaly, Delayed CNS myelination... OMIM:617050
Hyperphenylalaninemia, Bh4-Deficient, B
Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Choreoathetosis OMIM:233910
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Myoclonic seizure, Cerebral palsy, Appendicular spasticity, Limb hypertonia, Bilateral tonic-clon... OMIM:620070
Corpus Callosum Agenesis-Neuronopathy Syndrome
Seizure, Abnormality of retinal pigmentation, Hemiplegia/hemiparesis, Agenesis of corpus callosum... ORPHA:1496
Halperin-Birk Syndrome
Optic atrophy, Spastic tetraplegia, Semilobar holoprosencephaly, Pseudobulbar paralysis, Generali... OMIM:618651
Ddost-Cdg
CNS hypomyelination, Seizure, Tremor, Short stature, Oromotor apraxia ORPHA:300536
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Tongue fasciculations, Spasticity, Growth delay, Leukodystrophy, Focal T2 hy... OMIM:252010
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Postnatal growth retardation, Hypertonia, Microcephaly, Bilateral tonic-clonic seizure ORPHA:79350
Mosaic Variegated Aneuploidy Syndrome 1
Cerebral hypoplasia, Seizure, Postnatal growth retardation, Intrauterine growth retardation, Agen... OMIM:257300
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Cessation of head growth, Broad-based gait, Seizure, Secondary microcephaly, Gait imbalance, Myoc... ORPHA:98794
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Hypertonia, Tortic... OMIM:128100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Seizure, Hypoplasia of the brainstem, Type II lissencephaly, Agyria, Polymicrogyri... OMIM:253800
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Truncal titubation, Seizure, Secondary microcephaly, Gait ataxia, Dysmetria, Tremor, Hypoplasia o... OMIM:618056
Alternating Hemiplegia Of Childhood
Seizure, Tetraparesis, Episodic hemiplegia, Chorea, Tremor, Rigidity, Abnormal pyramidal sign, Oc... ORPHA:2131
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Basal lamina onion bulb formation, Progressive spastic paraplegia, Demyelinating pe... ORPHA:2821
Joubert Syndrome 1
Optic disc coloboma, Hemifacial spasm, Hypoplasia of the brainstem, Chorioretinal coloboma, Occip... OMIM:213300
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Spasticity, Shuffling gait, Macular degeneration, Resting tremor, Akinesia, Abnormal cranial nerv... ORPHA:247234
Cog8-Cdg
Seizure, Myoclonus, Chronic axonal neuropathy, Progressive microcephaly, Atrophy/Degeneration aff... ORPHA:95428
Rolandic Epilepsy
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... ORPHA:1945
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Convulsive status epilepticus, Spasticity, Seizure, Intracerebral periventricular calcifications,... OMIM:608885
Spinocerebellar Ataxia 8
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Abnormal pyramidal tract morphology,... OMIM:608768
Parkinson Disease, Late-Onset
Short stepped shuffling gait, Resting tremor, Bradykinesia, Lewy bodies, Tremor, Rigidity, Substa... OMIM:168600
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Cerebral atrophy, Ankle clon... OMIM:615398
Intellectual Developmental Disorder, X-Linked 98
Ataxia, Generalized non-motor (absence) seizure, Secondary microcephaly, Postnatal growth retarda... OMIM:300912
Amyloidosis, Hereditary Systemic 1
Spasticity, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Orthostat... OMIM:105210
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Focal myoclonic seizure, Seizure, Cerebral palsy, Bilateral tonic-clonic seiz... ORPHA:369929
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Generalized non-motor (absence) seizure, Infantile spasms, Periventricular white matter ... OMIM:620224
Dilated Cardiomyopathy With Ataxia
Optic atrophy, Seizure, Intrauterine growth retardation, Bilateral basal ganglia lesions, Action ... ORPHA:66634
Intellectual Developmental Disorder, Autosomal Dominant 54
Ataxia, Seizure, Inability to walk, Athetoid cerebral palsy, Hyperkinetic movements, Microcephaly... OMIM:617799
Cntnap2-Related Developmental And Epileptic Encephalopathy
Cerebral palsy, Seizure, Periventricular leukomalacia, Focal-onset seizure, Lower limb spasticity... ORPHA:163681
Intellectual Developmental Disorder, Autosomal Dominant 34
Secondary microcephaly, Broad-based gait, Bilateral tonic-clonic seizure OMIM:616351
Mitochondrial Neurogastrointestinal Encephalomyopathy
Leukoencephalopathy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Abn... ORPHA:298
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 ye... ORPHA:42
Bohring-Opitz Syndrome
Abnormal optic nerve morphology, Seizure, Hypoplasia of the brainstem, Intrauterine growth retard... OMIM:605039
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Leukoencephalopathy, Myoclonic seizure, Myelopathy, Seizure, Tetraparesis, T... OMIM:617186
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Seizure, Intrauterine growth retardation, Tremor, Bilateral tonic-clonic seizure, ... OMIM:610505
Even-Plus Syndrome
Severe short stature, Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Fragile X-Associated Tremor/Ataxia Syndrome
Cerebral cortical atrophy, Abnormal brainstem morphology, Gait ataxia, Dysmetria, Rigidity, Parki... ORPHA:93256
Gm1 Gangliosidosis
Optic atrophy, Spasticity, Seizure, Generalized dystonia, Cherry red spot of the macula, Retinopa... ORPHA:354
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Secondary microcephaly, Action tremor, Cone/cone-rod dystrophy, Lingual dystonia, Optic disc pall... ORPHA:404454
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Alexander Disease
Spasticity, Seizure, Chorea, Cerebral calcification, Tremor, Agenesis of corpus callosum, Abnorma... ORPHA:58
Aceruloplasminemia
Blepharospasm, Involuntary movements, Macular degeneration, Abnormal corpus striatum morphology, ... ORPHA:48818
Niemann-Pick Disease, Type C1
Spasticity, Neurofibrillary tangles, Cataplexy, Seizure, Gait ataxia, Ataxia, Dystonia OMIM:257220
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy, Seizure, Cerebral atrophy, Tremor, Ataxia, Growth delay OMIM:222300
Webb-Dattani Syndrome
Spasticity, Secondary microcephaly, Hypoplasia of the corpus callosum, Delayed CNS myelination, B... OMIM:615926
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Generalized myoclonic seizure, Myoclonic seizure, Seizure, Generalized-onset seizu... OMIM:614231
Pyruvate Carboxylase Deficiency
CNS hypomyelination, Growth delay, Seizure, Tip-toe gait, Increased caudate lactate level, Perive... ORPHA:3008
Joubert Syndrome
Seizure, Aplasia/Hypoplasia of the corpus callosum, Polymicrogyria, Encephalocele, Tremor, Agangl... ORPHA:475
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Inability to walk, Microcephaly, Delayed CNS myelination, Bilateral to... OMIM:620066
Hereditary Cryohydrocytosis With Reduced Stomatin
Spastic paraplegia, Seizure, Intracerebral periventricular calcifications, Postnatal growth retar... ORPHA:168577
Supranuclear Palsy, Progressive, 1
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Cerebral atrophy, Akinesia, Gait ... OMIM:601104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Occipital encephalocele, Seizure, Hypoplasia of the brainstem, Type II lissencepha... OMIM:236670
Pelger-Huet Anomaly
Bilateral tonic-clonic seizure, Mild short stature, Seizure, Lower limb hypertonia OMIM:169400
Mitochondrial Complex I Deficiency, Nuclear Type 39
Dysplastic corpus callosum, Intrauterine growth retardation OMIM:620135
Congenital Insensitivity To Pain With Severe Intellectual Disability
Delayed CNS myelination, Bilateral tonic-clonic seizure ORPHA:453510
Classic Phenylketonuria
Seizure, Hemiplegia, Paraplegia, Cerebral calcification, Tremor, Microcephaly, Hypertonia, Growth... ORPHA:79254
Microphthalmia, Syndromic 6
Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Aplasia of the optic tract,... OMIM:607932
Spinocerebellar Ataxia, Autosomal Recessive 30
Cerebral atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation OMIM:619405
Parkinson Disease 17
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Supranuclear Palsy, Progressive, 2
Neuronal loss in basal ganglia, Falls, Neurofibrillary tangles, Postural tremor, Gait imbalance, ... OMIM:609454
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait ORPHA:209335
Niemann-Pick Disease Type C
Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Hypoplasia of the corpus callosum,... ORPHA:646
Salla Disease
Spasticity, Seizure, Inability to walk, Ataxia, Athetosis, Growth delay OMIM:604369
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Akinesia, Gait imbalance, Axi... ORPHA:240071
3P25.3 Microdeletion Syndrome
Generalized non-motor (absence) seizure, Cerebral white matter atrophy, Bilateral tonic-clonic se... ORPHA:435638
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Broad-based gait, Seizure, Decreased number of peripheral myelinated nerve fibers, Loss of ambula... OMIM:256810
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Ataxia, Cerebral cortical atrophy, Broad-based gait, Abnormal optic chiasm morphology, Typical ab... ORPHA:268261
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... OMIM:618527
Hyperekplexia 3
Hypertonia, Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response OMIM:614618
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Involuntary movements, Focal hyperkinetic seizure, Paroxysmal dystonia, Nocturnal seizures, Bilat... ORPHA:98784
Familial Cerebral Saccular Aneurysm
Abnormal brainstem morphology, Encephalomalacia, Seizure, Hemiparesis ORPHA:231160
Parkinson-Dementia Syndrome
Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign, Abnormal pyramidal tract morphology OMIM:260540
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Microcephaly, Bilateral tonic-clonic seizure OMIM:619356
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Secondary microcephaly, Infantile spasms, Hypoplasia of the corpus callosum, Cerebral hypomyelina... ORPHA:447997
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Cerebral cortex with spongiform changes, Neurofibrillary tangles, Seizure OMIM:605055
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... OMIM:606002
3-Methylglutaconic Aciduria, Type Viib
Rhizomelia, Spasticity, Seizure, Cerebral atrophy, Intrauterine growth retardation, Myoclonus, Tr... OMIM:616271
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Difficulty walking, Dysmetria, Tremor, Hyperintensity of cerebral white m... ORPHA:502423
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Myoclonic seizure, Cerebral palsy, Bilateral tonic-clonic seizure, Athetosis, Spastic... OMIM:615474
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal basal ganglia MRI signal intensity, Spastic paraparesis, Difficulty walking, Abnormal gl... ORPHA:309854
Autosomal Dominant Spastic Paraplegia Type 9A
Falls, Seizure, Tremor, Babinski sign, Abnormal pyramidal sign, Corpus callosum atrophy, Abnormal... ORPHA:447753
Superficial Siderosis
Abnormal corpus callosum morphology, Seizure, Abnormality of the vestibulocochlear nerve, Limb at... ORPHA:247245
Combined Oxidative Phosphorylation Defect Type 23
Abnormal basal ganglia MRI signal intensity, Seizure, Leukodystrophy, Abnormal brainstem MRI sign... ORPHA:444013
Coenzyme Q10 Deficiency, Primary, 1
Seizure, Myoclonus, Tremor, Diffuse cerebral atrophy, Loss of ambulation, Right hemiplegia, Rod-c... OMIM:607426
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Spasticity, Myoclonic seizure, Hypoplasia of the pons, Generalized non-motor (absence) seizure, S... OMIM:620455
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Tremor, At... OMIM:617675
Joubert Syndrome 8
Pigmentary retinopathy, Occipital encephalocele, Oculomotor apraxia, Hypertonia, Ataxia, Molar to... OMIM:612291
Weaver Syndrome
Spasticity, Lateral ventricle dilatation, Seizure, Generalized non-motor (absence) seizure, Absen... OMIM:277590
Neurodegeneration With Brain Iron Accumulation 1
Blepharospasm, Optic atrophy, Spasticity, Pigmentary retinopathy, Eye of the tiger anomaly of glo... OMIM:234200
Full Nf2-Related Schwannomatosis
Myelopathy, Bilateral vestibular schwannoma, Peripheral schwannoma, Neuroma, Seizure, Brain stem ... ORPHA:637
Glass Syndrome
Broad-based gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Microce... OMIM:612313
Spinocerebellar Ataxia Type 21
Akinesia, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressiv... ORPHA:98773
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Spasticity, Non-convulsive status epilepticus without coma, Lateral ventricle dilatation, Seizure... ORPHA:544488
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
47,Xyy Syndrome
Seizure, Abnormal brainstem morphology, Azoospermia, Hydrocephalus, Oligozoospermia, Congenital s... ORPHA:8
Parkinson Disease 20, Early-Onset
Cerebral cortical atrophy, Involuntary movements, Shuffling gait, Short stepped shuffling gait, B... OMIM:615530
Cockayne Syndrome Type 3
Seizure, Difficulty walking, Basal ganglia calcification, Mild postnatal growth retardation, Abno... ORPHA:90324
Cockayne Syndrome Type 1
Optic atrophy, Pigmentary retinopathy, Seizure, Difficulty walking, Postnatal growth retardation,... ORPHA:90321
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Cerebral cortical atrophy, Seizure, Abnormal brainstem morphology, Intrauterine growth retardatio... ORPHA:464311
Metachromatic Leukodystrophy
Decerebrate rigidity, Seizure, Tip-toe gait, Incoordination, Decreased nerve conduction velocity,... ORPHA:512
Joubert Syndrome With Hepatic Defect
Occipital encephalocele, Seizure, Optic disc coloboma, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:1454
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Optic atrophy, Spasticity, Resting tremor, Cerebral atrophy, Head tremor, Babinski sign, Abnormal... ORPHA:314404
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Microcephaly, Hypertonia OMIM:604273
Childhood Absence Epilepsy
Myoclonic absence seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within the a... ORPHA:64280
Oculoskeletodental Syndrome
Short stature, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... OMIM:613280
Arnold-Chiari Malformation Type I
Myelopathy, Brain stem compression, Cranial nerve compression, Abnormality of the vestibulocochle... ORPHA:268882
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased nerve conduction velocity, Broad-based gait, Decreased number of peripheral myelinated ... ORPHA:477817
Alobar Holoprosencephaly
Spasticity, Seizure, Abnormal central motor function, Abnormal brainstem morphology, Inability to... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Spasticity, Seizure, Abnormal central motor function, Abnormal brainstem morphology, Inability to... ORPHA:93926
Lobar Holoprosencephaly
Spasticity, Seizure, Abnormal central motor function, Abnormal brainstem morphology, Inability to... ORPHA:93924
Semilobar Holoprosencephaly
Spasticity, Seizure, Abnormal central motor function, Abnormal brainstem morphology, Inability to... ORPHA:220386
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Spasticity, Seizure, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Microcephaly,... OMIM:618569
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Seizure, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Partial agenesis of the ... OMIM:619103
Holoprosencephaly 14
Alobar holoprosencephaly, Absent septum pellucidum, Microcephaly, Hydrocephalus, Bilateral tonic-... OMIM:619895
Bone Marrow Failure Syndrome 5
Short stature, Microcephaly, Growth delay, Bilateral tonic-clonic seizure OMIM:618165
D-Bifunctional Protein Deficiency
Cerebral hypoplasia, Seizure, Polymicrogyria, Decreased nerve conduction velocity, Hypoplasia of ... OMIM:261515
Niemann-Pick Disease, Type C2
Spasticity, Neurofibrillary tangles, Cataplexy, Seizure, Ataxia, Dystonia OMIM:607625
Alkuraya-Kucinskas Syndrome
Seizure, Hypoplasia of the brainstem, Aplasia/Hypoplasia of the corpus callosum, Oculomotor aprax... OMIM:617822
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Leukodystrophy, Paraplegia, Hemiparesis, Microcephaly, Paraparesis, Bilateral tonic-clonic seizure ORPHA:79124
Isolated Permanent Neonatal Diabetes Mellitus
Intrauterine growth retardation, Retinopathy, Peripheral axonal neuropathy, Apraxia, Bilateral to... ORPHA:99885
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... OMIM:201300
Monosomy 18Q
Diffuse white matter abnormalities, Seizure, Microcephaly, Hydrocephalus, Abnormal retinal morpho... ORPHA:1600
Hallermann-Streiff Syndrome
Optic disc coloboma, Chorioretinal coloboma, Proportionate short stature, Microcephaly, Spina bif... OMIM:234100
Tick-Borne Encephalitis
Tongue fasciculations, Abnormal medulla oblongata morphology, Generalized-onset seizure, Incoordi... ORPHA:297
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Spasticity, Retinal dysplasia, Occipital encephalocele, Seizure, Hypoplasia of the brainstem, Typ... OMIM:615287
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Lateral ventricle dilatation, Bilateral tonic-clonic seizure OMIM:619278
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corpus callosum, Micro... ORPHA:314679
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Degeneration of the striatum, Leukodystrophy, Difficulty walking... ORPHA:51
Dpagt1-Cdg
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Seizure, Inability to walk, Epilep... ORPHA:86309
Alzheimer Disease 9, Susceptibility To
Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyra... OMIM:608907
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Cerebral cortical atrophy, Myoclonic seizure, Fasciculations, Intrauterine growth retardation, Dy... OMIM:620327
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Spasticity, Oculogyric crisis, Seizure, Frequent falls, Tremor, Microcephaly, Oculomotor apraxia,... OMIM:612716
Cerebral Amyloid Angiopathy, Itm2B-Related, 2
Spasticity, Neurofibrillary tangles, Ataxia, Intention tremor, Cerebral amyloid angiopathy OMIM:117300
Hyperlysinemia
Poor motor coordination, Tip-toe gait, Seizure, Dysmetria, Tremor, Neck hypertonia, Opisthotonus,... ORPHA:2203
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Seizure, Cerebral atrophy, Postnatal growth retardation, Microcephaly, Bilateral toni... OMIM:301040
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Broad-based gait, Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the a... ORPHA:513456
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Seizure, Cerebral atrophy, Myoclonus, Microcephaly, Bilateral tonic-clonic seizure, A... OMIM:618426
Dystonia 13, Torsion, Autosomal Dominant
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... OMIM:607671
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Inability to walk, Myoclonus, Intenti... OMIM:208900
Mitochondrial Trifunctional Protein Deficiency 2
Bilateral tonic-clonic seizure, Seizure, Neonatal death OMIM:620300
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Involuntary movements, Broad-based gait, Seizure, Bilateral tonic-clonic seizure on awakening, In... ORPHA:438213
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Abnormal cerebral cortex mor... ORPHA:68
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Cerebral cortical atrophy, Broad-based gait, Seizure, Hand tremor, Hippocampal atrophy, Gait atax... OMIM:614756
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Seizure, Generalized non-motor (absence) seizure, Inability to walk, Pontocerebellar atrophy, Pac... ORPHA:258
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Diffuse white matter abnormalities, Cerebral cortical atrophy, Difficulty walking, Gait ataxia, B... ORPHA:457359
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Optic neuritis, Growth delay, Bilateral tonic-clonic seizure ORPHA:436159
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Broad-based gait, Reduced cerebral white matter volume, Myoclonic seizure, Seizure, Cerebral atro... OMIM:280000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Hartsfield Syndrome
Alobar holoprosencephaly, Semilobar holoprosencephaly, Agenesis of corpus callosum, Microcephaly,... OMIM:615465
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Retinal coloboma, Pachygyria, Polymicrogyria ORPHA:2328
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Semilobar holoprosencephaly, Seizure, Intrauterine growth retardation, Infantile spasms, Hypoplas... OMIM:301044
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Microcephaly, Bilateral tonic-clonic seizure OMIM:201475
W Syndrome
Spasticity, Bilateral tonic-clonic seizure ORPHA:2804
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Genera... ORPHA:459070
Gangliocytoma
Abnormal brainstem morphology, Focal-onset seizure, Ganglioneuroma ORPHA:251937
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Agenesis of corpus callosum, Microcephaly, Lower lim... ORPHA:314621
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Short stature, Oculomotor apraxia, Abnormal myelination, Hypoplasia of the corpus callosum ORPHA:67045
Zttk Syndrome
Optic atrophy, Spasticity, Seizure, Intrauterine growth retardation, Periventricular leukomalacia... OMIM:617140
Kinsship Syndrome
Generalized non-motor (absence) seizure, Myoclonus, Microcephaly, Primary microcephaly, Bilateral... OMIM:619297
Alzheimer Disease, Familial, 1
Parkinsonism, Neurofibrillary tangles OMIM:104300
Alzheimer Disease 2
Parkinsonism, Neurofibrillary tangles OMIM:104310
Tyrosinemia Type 2
Microcephaly, Tremor, Seizure, Ataxia ORPHA:28378
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Ap... OMIM:607485
Gaucher Disease
Abnormal macular morphology, Cherry red spot of the macula, Retinopathy, Hemiplegia/hemiparesis, ... ORPHA:355
Spongiform Encephalopathy With Neuropsychiatric Features
Parkinsonism, Neurofibrillary tangles, Cerebral cortex with spongiform changes OMIM:606688
Lujo Hemorrhagic Fever
Bilateral tonic-clonic seizure, Cerebral edema, Resting tremor, Seizure ORPHA:319213
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (wi... OMIM:620330
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:301091
Cocaine Intoxication
Involuntary movements, Seizure, Ischemic stroke, Focal-onset seizure, Tremor, Bilateral tonic-clo... ORPHA:90068
X Small Rings
Bilateral tonic-clonic seizure, Growth delay, Seizure, Congenital stationary night blindness ORPHA:96201
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Seizure, Speech apraxia, Tremor, Dysplastic corpus callosum, Delayed puberty, Ataxia, Thick corpu... OMIM:300967
Arima Syndrome
Optic atrophy, Chorioretinal coloboma, Hypoplasia of the brainstem, Brainstem dysplasia, Occipita... OMIM:243910
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Growth delay, Incoordination, Ortho... OMIM:223900
Meningioma
Neurofibroma, Brain stem compression, Seizure, Hemifacial spasm, Abnormal central motor function,... ORPHA:2495
Chromosome 22Q13 Duplication Syndrome
Status epilepticus, Bilateral tonic-clonic seizure OMIM:615538
Cerebellar-Facial-Dental Syndrome
Severe short stature, Abnormal midbrain morphology, Infancy onset short-trunk short stature, Hypo... ORPHA:444072
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Spasticity, Abnormal cerebral cortex morphology, Lateral ventricle dilatation, Gen... ORPHA:500150
3-Methylglutaconic Aciduria, Type Viii
Seizure, Cerebral atrophy, Secondary microcephaly, Tremor, Hypoplasia of the corpus callosum, Neo... OMIM:617248
Oliver Syndrome
Microcephaly, Intrauterine growth retardation, Bilateral tonic-clonic seizure ORPHA:2920
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... OMIM:256800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Seizure, Pseudobulbar paralysis, Speech apraxia, Hypoplasia of the corpus callosum, Dysplastic co... ORPHA:466791
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... ORPHA:466943
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 months to 6 years) ORPHA:3044
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum ORPHA:363444
Ogden Syndrome
Cerebral atrophy, Generalized-onset seizure, Postnatal growth retardation, Intrauterine growth re... OMIM:300855
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized myoclonic seizure, General... ORPHA:369837
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Lenz-Majewski Hyperostotic Dwarfism
Cerebral cortical atrophy, Intrauterine growth retardation, Agenesis of corpus callosum, Dysplast... OMIM:151050
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microcephaly, Intrauterine growth retardation, Delayed peripheral myelination ORPHA:364577
Achondroplasia
Rhizomelia, Neonatal short-limb short stature, Brain stem compression, Hydrocephalus, Megalencephaly OMIM:100800
Pseudoleprechaunism Syndrome, Patterson Type
Bilateral tonic-clonic seizure, Atonic seizure ORPHA:2976
African Trypanosomiasis
Involuntary movements, Abnormal basal ganglia MRI signal intensity, Myelopathy, Seizure, Fascicul... ORPHA:3385
Genitourinary And/Or Brain Malformation Syndrome
Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy... OMIM:618820
Alzheimer Disease 4
Apraxia, Neurofibrillary tangles, Cerebral amyloid angiopathy OMIM:606889
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure ORPHA:466950
Witteveen-Kolk Syndrome
Poor motor coordination, Seizure, Intrauterine growth retardation, Hypoplasia of the corpus callo... OMIM:613406
Listeriosis
Seizure, Myoclonus, Tremor, Hemiparesis, Ataxia, Abnormal brainstem MRI signal intensity ORPHA:533
Paget Disease Of Bone 2, Early-Onset
Paraparesis, Brain stem compression, Tetraparesis OMIM:602080
Doors Syndrome
Optic atrophy, Polymicrogyria, Myoclonus, Microcephaly, Bilateral tonic-clonic seizure, Spina bif... ORPHA:79500
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms, Bilateral tonic-clonic seizure ORPHA:73224
Orofaciodigital Syndrome Type 14
Open operculum, Retinal coloboma, Hypoplasia of the corpus callosum, Microcephaly, Molar tooth si... ORPHA:434179
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Generalized non-motor (absence) seizure, Tremor, Microcephaly, Bilateral tonic-clonic se... OMIM:612474
Orofaciodigital Syndrome Type 2
Short stature, Central retinal vessel vascular tortuosity, Bilateral tonic-clonic seizure ORPHA:2751
Osteogenesis Imperfecta
Rhizomelia, Brain stem compression, Tetraparesis, Intrauterine growth retardation, Loss of ambula... ORPHA:666
Kabuki Syndrome 1
Lateral ventricle dilatation, Seizure, Postnatal growth retardation, Bilateral tonic-clonic seizu... OMIM:147920
Sotos Syndrome
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Aplasia/Hypoplas... ORPHA:821
White-Kernohan Syndrome
Dysplastic corpus callosum OMIM:619426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Seizure, Ganglioneuroma, Delayed puberty, Abnormal autonomic nervou... ORPHA:293987
Degcags Syndrome
Intrauterine growth retardation, Agenesis of corpus callosum, Microcephaly, Vocal cord paralysis,... OMIM:619488
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Hydrocephalus, Seizure OMIM:269920

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Slc17a5

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Slc17a5.

No publications found that use IMPC mice or data for Slc17a5.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Slc17a5tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Slc17a5tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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