Maturity-Onset Diabetes Of The Young, Type 4 |
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Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
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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 |
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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 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Stxbp1-Related Encephalopathy |
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Epileptic spasm, Cerebral white matter atrophy, Ataxia, Bilateral tonic-clonic seizure with focal... |
ORPHA:599373 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
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Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Reduced cerebral white matter vo... |
OMIM:620317 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Cerebral atro... |
OMIM:617672 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
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Cerebral calcification, Ataxia, Tremor, Abnormal pyramidal sign, Leukoencephalopathy, Seizure, Ga... |
OMIM:614561 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidity, Babinski sign, S... |
OMIM:300423 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Caudate atrophy, Basal ganglia calcification, Babinski sign, Cerebral atrophy, Leukoencephalopath... |
OMIM:221770 |
Peroxisome Biogenesis Disorder 8B |
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Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Pontocerebellar Hypoplasia, Type 15 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, H... |
OMIM:619302 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Hypoplasia of the corpus callosum, Abnormal my... |
ORPHA:401840 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Lower limb spasticity, Ataxia, Bilateral tonic-clonic seizure, Microcephaly, Babinski sign, Optic... |
OMIM:614322 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Seizure, L... |
OMIM:249900 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:614895 |
Pontocerebellar Hypoplasia, Type 14 |
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Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Hypoplasia of the pons... |
OMIM:619301 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Lissencephaly 3 |
|
Agyria, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Spastic tetraplegia, Seizure, Hypop... |
OMIM:611603 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... |
ORPHA:280234 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
ORPHA:206594 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Opt... |
OMIM:611726 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:180800 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset ... |
ORPHA:330050 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
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Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Hand tremor, Gait ataxia, Hypopl... |
OMIM:617862 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Decreased compound muscle action potential amplitude, Babinski sign, Hand tremor, Steppage gait, ... |
OMIM:618279 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Yoon-Bellen Neurodevelopmental Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Microcephaly, Generalized myoclonic-ato... |
OMIM:619701 |
Developmental And Epileptic Encephalopathy 34 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizur... |
OMIM:616645 |
Adult Krabbe Disease |
|
Hoffmann sign, Abnormal medulla oblongata morphology, Ataxia, Abnormal pyramidal tract morphology... |
ORPHA:206448 |
Developmental And Epileptic Encephalopathy 74 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Reduced... |
OMIM:618396 |
Foxg1 Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Optic disc hypoplasia, Focal-ons... |
ORPHA:561854 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Cerebral cortical atrophy, Difficulty walking,... |
ORPHA:401820 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... |
OMIM:606483 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Steppage gait, Onion bulb formation, Peripheral demyelination, Axon... |
OMIM:620378 |
Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Simplified gyral pattern, Gait ataxia, Status epilepticus, Myoclo... |
OMIM:616540 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Microcephaly, Thin corpus callosum, Stat... |
OMIM:620200 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk, Dysplastic corpus callosum, Tetr... |
OMIM:618276 |
Infantile Cerebellar-Retinal Degeneration |
|
Ataxia, Bilateral tonic-clonic seizure, Retinal dystrophy, Microcephaly, Focal-onset seizure, Opt... |
OMIM:614559 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Developmental And Epileptic Encephalopathy 91 |
|
Delayed CNS myelination, Epileptic spasm, Short stature, Bilateral tonic-clonic seizure, Reduced ... |
OMIM:617711 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Unsteady g... |
ORPHA:2932 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral white matter atrophy, Waddling gait, Short stature, Ataxia, Seizure, Fasciculations, Bil... |
ORPHA:464282 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Involuntary movements, Infantile spasms,... |
OMIM:617493 |
Developmental And Epileptic Encephalopathy 109 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:620145 |
Isolated Focal Cortical Dysplasia |
|
Epileptic spasm, Generalized-onset seizure, Thick cerebral cortex, Bilateral tonic-clonic seizure... |
ORPHA:65683 |
Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreo... |
OMIM:616230 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Gait disturbance, Rod-cone dystr... |
OMIM:311070 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Lower limb spasticity, Dysplastic corpus callosum, Babinski sign, Spastic paraplegia, Optic atrop... |
OMIM:613162 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... |
OMIM:618587 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation |
OMIM:616039 |
Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Short stature, Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Tremor, Focal-onset seizure, Myoclonus, Difficulty walking, Giant... |
OMIM:613608 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Ba... |
OMIM:615362 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Hydrocephalus, Optic atrophy, Seiz... |
OMIM:245200 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Developmental And Epileptic Encephalopathy 99 |
|
Delayed CNS myelination, Multifocal seizures, Bilateral tonic-clonic seizure, Epileptic spasm, To... |
OMIM:619606 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Unsteady gait, Impaired tand... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Spastic tetraparesis, Clonic sei... |
OMIM:618012 |
Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Spastic tetraplegia, Myoclonic se... |
OMIM:617389 |
Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Rigidity, Dysmetria, Ga... |
OMIM:618090 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Bilateral tonic-clonic seizure, Parkinsonism, Optic atrophy, Cerebral atrophy, Seizure, Macular d... |
OMIM:204200 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Cerebral atrophy, Leukoencephalopath... |
OMIM:204300 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Ataxia, Infantile spasms, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Abnormal ... |
ORPHA:263410 |
Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Inabili... |
OMIM:616346 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... |
OMIM:604360 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Steppage gait, Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Microcephaly, Delayed myelination, Seizure, Myoclo... |
OMIM:617391 |
Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Abnormal brainstem morphology, Falls, Myoclo... |
ORPHA:2382 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Dysplastic corpus callo... |
ORPHA:250972 |
Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Rigidity, Chorea, ... |
OMIM:616981 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal regeneration |
OMIM:607731 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Appendicular spasticity, Optic disc pallor, Bilateral tonic-clonic seizure, Microcephaly, Pseudob... |
OMIM:617082 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Steppage gait, Axonal degeneration/regene... |
OMIM:607677 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Seizure, Status epilepti... |
OMIM:617830 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Peripheral axonal neuropathy, Torticollis, Ataxia, Microcephaly, Tremor, Babinski sign, Abnormal ... |
OMIM:607317 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Waddling gait, Decreased motor nerve cond... |
OMIM:609311 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Short stature, Ataxia, Infantile spasms, Reduced cerebral white matter volume, Inability to walk,... |
OMIM:618174 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Myoclonic seizure, Seizure, Abnormality of ... |
OMIM:162350 |
Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus |
OMIM:616187 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (... |
OMIM:617810 |
Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Incoordination, Bilateral tonic-clonic seizure, Typical absence seizure, Unstead... |
OMIM:616409 |
Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Leukoencephalopathy, Spasticity |
OMIM:611105 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... |
OMIM:618425 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Generalized-onset seizure, Unilateral polymicrogyria, Infantile spasms, Microcephaly, Partial age... |
OMIM:610031 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... |
ORPHA:36387 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Seizure, Oculomotor apraxia, Spastic tetraparesis, Babinski sign, Optic atrophy, Ankle... |
ORPHA:171629 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:302800 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology, Bilateral tonic-clonic seizure, Severe demyelination of th... |
ORPHA:488635 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Rod-cone dystrophy, Unsteady gait, Choreoathetosis, Seizu... |
OMIM:301020 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Seizure, Hypo... |
OMIM:604213 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Cerebral... |
ORPHA:263516 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Short stature, Ataxia,... |
OMIM:604168 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Speech apraxia, Short stature, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure wit... |
OMIM:245570 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Delayed my... |
ORPHA:485350 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... |
OMIM:611228 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... |
ORPHA:431329 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodystrophy, Atrophy/Degen... |
OMIM:612319 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Severe Canavan Disease |
|
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Megalencephaly, Inability to walk,... |
ORPHA:314911 |
Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Tremor, Generalized myoclonic seizure, Giant somatosensory evoked... |
OMIM:601068 |
Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Focal... |
OMIM:617904 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Akinesia, Postural tremor, Rigidity... |
OMIM:619911 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Microcephaly |
OMIM:617709 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Short stature, Ataxia, Retinal dystrophy,... |
OMIM:616756 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Bilateral tonic-clonic seizure with generalized onset, Microcephaly, Spastic tetraplegia, Cerebra... |
OMIM:618730 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Short stature, Absent septum pellucidum, Microcephaly, Inability to walk, Simplified gyral patter... |
OMIM:618492 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Focal-onset seizure, Cortical dysplasia, Or... |
ORPHA:300573 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Spastic tetraparesis, Microcephaly, Tremor, Hydrocephalus, Optic atrophy, Simpl... |
OMIM:619470 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Seizure, Ataxia |
OMIM:213000 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Cerebral white matter atrophy, Truncal titubation, Bab... |
OMIM:610532 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Cerebral atrop... |
OMIM:618497 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Seizure, Abnormal c... |
ORPHA:352682 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset s... |
ORPHA:725 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Infantile spasms, Microcephaly, H... |
ORPHA:171680 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Epilepsia partialis continua, Ataxia, Involuntary movements, Decreased number of large peripheral... |
OMIM:271245 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Agenesis of corpus ... |
ORPHA:401830 |
Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Steppage gait, Onion bulb formation... |
OMIM:608340 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Abnormal pyramidal sign, Peripheral demyelination, ... |
DECIPHER:59 |
Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Spastic tetraple... |
OMIM:613721 |
Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Choreoathetosis, Status epilepticus,... |
OMIM:609056 |
Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Chorea, Myocloni... |
OMIM:616139 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, Unsteady gait, Bilateral tonic-clonic seizure, Truncal ataxia |
OMIM:608636 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Bilateral tonic-clonic seizure with genera... |
ORPHA:2590 |
Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Bilateral tonic-clonic seizure, Optic atrophy, Spastic tetraplegia, Dystonia, Neonatal death, CNS... |
OMIM:618237 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607250 |
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly |
|
Bilateral tonic-clonic seizure, Megalencephaly, Seizure, Lissencephaly, Pachygyria |
OMIM:614499 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, Spastic paraple... |
OMIM:612164 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Seizure, Hypoplasia of the corpus callosu... |
OMIM:300983 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure |
OMIM:619964 |
Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Diffuse white matter abnormalities, Short stature, Typical absence sei... |
ORPHA:208447 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation, Spastic p... |
OMIM:182815 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Peripheral demyelination |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Steppage gait, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Developmental And Epileptic Encephalopathy 41 |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Inability... |
OMIM:617105 |
Lissencephaly, X-Linked, 1 |
|
Ataxia, Postnatal growth retardation, Seizure, Lissencephaly, Spasticity, Pachygyria, Agenesis of... |
OMIM:300067 |
Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
Developmental And Epileptic Encephalopathy 16 |
|
Microcephaly, Clonic seizure, Delayed myelination, Optic atrophy, Cerebral atrophy, Hemiparesis, ... |
OMIM:615338 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Steppage gait, Onion bul... |
OMIM:610100 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Simplified gyral pattern, Abnormal brainstem morphology, Growth delay, Seizure, Hy... |
ORPHA:411493 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Epileptic spasm, Diffuse cerebral atrophy, Short stature, Bilateral tonic-clonic seizure, Focal-o... |
ORPHA:289266 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Appendicular spasticity, Delayed CNS myelination, Inability to walk, Optic atrophy, Seizure, Peri... |
OMIM:618324 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxia, Dysmetria, ... |
OMIM:614487 |
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, Hydrocephalus, Status epilepticus, Generalized my... |
OMIM:266100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
Alternating Hemiplegia Of Childhood 1 |
|
Episodic quadriplegia, Bilateral tonic-clonic seizure, Episodic hemiplegia, Choreoathetosis, Dyst... |
OMIM:104290 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Short stature, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, ... |
OMIM:617836 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Mi... |
OMIM:619725 |
Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Cerebral palsy, Inabi... |
OMIM:617976 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Atrophy/Degenerati... |
OMIM:618404 |
Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Generalized ... |
OMIM:619157 |
Unilateral Hemispheric Polymicrogyria |
|
Thick cerebral cortex, Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Fo... |
ORPHA:101071 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Segmental peripher... |
OMIM:162500 |
Landau-Kleffner Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic sei... |
ORPHA:98818 |
Peho-Like Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Status epilepticus, Myoclonus, Lissencephaly, Hypo... |
OMIM:617507 |
Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Chorea, Seizure, Athetosis, Focal impaired awareness seiz... |
ORPHA:382 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Atonic seizure, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizur... |
OMIM:612437 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:618184 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Abnormal brainstem morphology, Periventricular cysts, Spastic diplegia, Cerebral at... |
ORPHA:255182 |
Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Paroxysmal dyskinesia, Focal impaired awareness seizure |
OMIM:617080 |
Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
Bilateral Frontoparietal Polymicrogyria |
|
Bilateral tonic-clonic seizure with generalized onset, Cerebral dysmyelination, Microcephaly, Hyp... |
ORPHA:101070 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Inability to wa... |
OMIM:618470 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Spastic paraplegia, Dysmetria, Gait ... |
OMIM:615031 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:607706 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Inability to walk, Unsteady gai... |
ORPHA:93952 |
Hsd10 Disease |
|
Ataxia, Microcephaly, Postnatal growth retardation, Tremor, Rigidity, Optic atrophy, Choreoatheto... |
ORPHA:391417 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... |
ORPHA:457205 |
Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, In... |
OMIM:617166 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dystonia, Short stature, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria... |
OMIM:607694 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Seizure, Subcortical cerebral atrophy, Hypertonia, Abnor... |
ORPHA:33445 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Axonal degeneration/rege... |
OMIM:218000 |
Pontocerebellar Hypoplasia Type 2 |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure with generalized onset, Abnormal cortical gyr... |
ORPHA:2524 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Microcephaly, Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS ... |
ORPHA:477673 |
Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... |
OMIM:619970 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Involuntary movements, Microceph... |
OMIM:618325 |
Lissencephaly 4 |
|
Short stature, Babinski sign, Simplified gyral pattern, Growth delay, Seizure, Colpocephaly, Hype... |
OMIM:614019 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Peripheral axonal neuropathy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor apraxi... |
ORPHA:313772 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Bilateral tonic-clonic seizure, Microcephaly, Cortical dysplasia, Seizure, Pseudobulbar paralysis... |
ORPHA:208441 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Episodic ataxia, Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (... |
OMIM:607682 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Lower limb spasticity, Postural tremor, Bilateral tonic-clonic seizure, Spastic paraplegia, Babin... |
ORPHA:100988 |
Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Seizure, Dysplastic corpus callosum, Abnormal cerebral... |
ORPHA:500166 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... |
OMIM:618917 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... |
OMIM:614417 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Bilateral tonic-clonic seizure, Cerebral atrophy, Focal impaired awareness seizure |
OMIM:610003 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Bone spicule pigmentation of the retina, Ataxia, Decreased sensory nerve conduc... |
OMIM:609033 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Atypical absence sei... |
OMIM:617113 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Babinski sign, Spastic diplegia, Myoclonus... |
OMIM:619065 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Short stature, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Micr... |
ORPHA:442835 |
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Involuntary movements, Status epilepticus |
OMIM:617171 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Pro... |
OMIM:612736 |
Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
Leukodystrophy, Hypomyelinating, 6 |
|
Short stature, Ataxia, Microcephaly, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Seizure, L... |
OMIM:612438 |
Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Bilateral tonic-clonic seizure, Infantile spasms, Spastic hemiparesis, Microcephaly, Focal-onset ... |
OMIM:619616 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
Myoclonic-Atonic Epilepsy |
|
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 61 |
|
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Cerebral atrophy, Seizure, Focal ... |
OMIM:617933 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Diffuse leuko... |
OMIM:169500 |
Cortical Malformations, Occipital |
|
Pachygyria, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, Polymicr... |
OMIM:614115 |
Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Myoclonus, Difficulty walking |
OMIM:619191 |
Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Spasticity |
OMIM:613722 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Schizencephaly, Generalized-onset seizure, Bilateral tonic-clonic seizure, Spastic tetraparesis, ... |
OMIM:604317 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (absence) ... |
OMIM:271980 |
4H Leukodystrophy |
|
Dystonia, Short stature, Ataxia, Tremor, Optic atrophy, Dysmetria, Seizure, Progressive gait atax... |
ORPHA:289494 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Dysmetria... |
OMIM:617954 |
Pontocerebellar Hypoplasia, Type 2D |
|
Appendicular spasticity, Clonus, Delayed myelination, Chorea, Spastic tetraplegia, Cerebral atrop... |
OMIM:613811 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Rigidity, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Bilateral tonic-clonic seizure, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, G... |
OMIM:618093 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Short stature, Microcephaly, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retr... |
OMIM:617284 |
Spinocerebellar Ataxia 23 |
|
Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, CNS demyelination, Agenesis of corpus... |
OMIM:610245 |
Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Abnormal pyramidal sign, Limb ataxia, S... |
OMIM:617350 |
Epilepsy, Familial Temporal Lobe, 8 |
|
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... |
OMIM:616461 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Babinski sign, General... |
OMIM:618170 |
Developmental And Epileptic Encephalopathy 23 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Hypoplasia of the pons, Focal im... |
OMIM:615859 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Poor motor coordination, Photosensitive tonic-clonic seizure, Gen... |
ORPHA:86909 |
Lethal Congenital Contracture Syndrome 8 |
|
Neonatal death, Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis |
OMIM:616287 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Focal dystonia, C... |
ORPHA:216873 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Microcephaly, Spastic tetraplegia, Cere... |
OMIM:252160 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Normal pressure hydrocephalus, Gait disturbance, Tremor |
OMIM:611808 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Seizure, Epileptic spasm, Tremor |
OMIM:619561 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Inability to walk, Partia... |
ORPHA:79243 |
Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Dentici-Novelli Neurodevelopmental Syndrome |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Inability... |
OMIM:619877 |
Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure, Paraparesis, Choreoath... |
ORPHA:726 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Gait a... |
OMIM:618387 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Progressive truncal ataxia, Spastic ataxia, Decreased motor nerve conduction velocity, Ataxia, De... |
OMIM:270550 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Seizure, Status ep... |
ORPHA:529665 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
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Bilateral tonic-clonic seizure, Involuntary movements, Microcephaly, Cerebral atrophy, Growth del... |
ORPHA:209370 |
Leukodystrophy, Hypomyelinating, 2 |
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Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
Polymicrogyria, Bilateral Temporooccipital |
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Polymicrogyria, Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impair... |
OMIM:612691 |
Neuromyelitis Optica Spectrum Disorder |
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Optic neuritis, Peripheral demyelination, Paraplegia |
ORPHA:71211 |
Familial Focal Epilepsy With Variable Foci |
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Focal cortical dysplasia, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizur... |
ORPHA:98820 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
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Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Unsteady gait, Mid... |
OMIM:617542 |
Episodic Ataxia, Type 5 |
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Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, Myoclonus, Atypical absence seiz... |
OMIM:613855 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Inability to wal... |
ORPHA:101077 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Bilateral tonic-clonic seizure, Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Dys... |
ORPHA:53583 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Spinocerebellar Ataxia With Epilepsy |
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Cerebral infarct, Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetr... |
ORPHA:254881 |
Migraine, Familial Hemiplegic, 1 |
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Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia |
OMIM:141500 |
Brain Small Vessel Disease 2 |
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Schizencephaly, Bilateral tonic-clonic seizure, Focal-onset seizure, Porencephalic cyst, Spastic ... |
OMIM:614483 |
Developmental And Epileptic Encephalopathy 79 |
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Bilateral tonic-clonic seizure with generalized onset, Migrating focal seizure, Tonic seizure, CN... |
OMIM:618559 |
Pelizaeus-Merzbacher Disease |
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Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Epilepsy, Nocturnal Frontal Lobe, 2 |
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Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Seizure, Myoclonus, Abnorma... |
OMIM:609136 |
Rasmussen Subacute Encephalitis |
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Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... |
ORPHA:1929 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, Type 4D |
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Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Folinic Acid-Responsive Seizures |
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Broad-based gait, Ataxia, Spastic tetraparesis, Clonic seizure, Delayed myelination, Chorea, Opti... |
ORPHA:79097 |
Multiple Sulfatase Deficiency |
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Short stature, Ataxia, Hydrocephalus, Cerebral atrophy, Abnormal periventricular white matter mor... |
OMIM:272200 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
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Delayed CNS myelination, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:619428 |
Spinocerebellar Ataxia Type 1 |
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Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Slurred spe... |
ORPHA:98755 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Partial agenesis of the corpus callosum, Cerebral atrophy, Seizure, Abnormal myelination, Agenesi... |
ORPHA:85179 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
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Inability to walk, Focal-onset seizure, Chorea, Convulsive status epilepticus, Dystonia, Hypoplas... |
OMIM:618760 |
Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure, Cerebral atrophy, Myoc... |
OMIM:226750 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Generalized myoclonic seizure, Bilateral tonic-clonic seizure |
OMIM:611364 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
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Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Abnorma... |
ORPHA:314632 |
Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
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Frontal polymicrogyria, Broad-based gait, Cerebral dysmyelination, Hypoplasia of the pons, Babins... |
OMIM:606854 |
Glutaric Acidemia I |
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Rigidity, Hydrocephalus, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Se... |
OMIM:231670 |
Tubulinopathy-Associated Dysgyria |
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Startle-induced seizure, Ataxia, Infantile spasms, Microcephaly, Hypoplasia of the pons, Abnormal... |
ORPHA:467166 |
Spastic Paraplegia 6, Autosomal Dominant |
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Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Optic Atrophy 3, Autosomal Dominant |
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Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
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Spastic ataxia, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodystrophy, Unsteady gai... |
ORPHA:137898 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Microcephaly, Decreased nerve conduction velocity, Gait disturbance, Loss of ambulation, Myelin o... |
OMIM:615284 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Postnatal growth retardation, Intrauterine growth retardation, Peripheral demyelination |
OMIM:616733 |
Cln3 Disease |
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Extrapyramidal muscular rigidity, Bilateral tonic-clonic seizure, Ataxia, Bull's eye maculopathy,... |
ORPHA:228346 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
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Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Thin corpus callosum |
OMIM:619651 |
Microcephaly 17, Primary, Autosomal Recessive |
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Short stature, Simplified gyral pattern, Microlissencephaly, Seizure, Hypoplasia of the brainstem... |
OMIM:617090 |
Developmental And Epileptic Encephalopathy 103 |
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Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, ... |
OMIM:619913 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Growth delay, Seizure, Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
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Bilateral tonic-clonic seizure, Involuntary movements, Microcephaly, Inability to walk, Myoclonic... |
OMIM:615716 |
Abetalipoproteinemia |
|
Ataxia, CNS demyelination, Retinopathy, Peripheral demyelination, Retinal degeneration |
OMIM:200100 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Parkinsonism, Poor motor coordination, Cerebra... |
ORPHA:79264 |
Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Leukoencephalopathy With Calcifications And Cysts |
|
Intracerebral periventricular calcifications, Cerebral calcification, Ataxia, Tremor, Basal gangl... |
ORPHA:542310 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
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Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Parkinsonism, Tremor, Rigidity, Chorea, Basal ganglia calcification, Abnormal pyramidal sign, Bra... |
OMIM:213600 |
Prune1-Related Neurological Syndrome |
|
Epileptic spasm, Clonus, Spastic tetraparesis, Microcephaly, Inability to walk, Delayed myelinati... |
ORPHA:544469 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... |
ORPHA:79262 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Seizure, Dystonia, Intraute... |
OMIM:618238 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, Abnormal basal gangli... |
ORPHA:99852 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Leukodystrophy, Dystonia, Los... |
OMIM:617916 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Generalized-onset seizure, Tremor, Dysplastic corpus callosum, Retrobulbar opt... |
OMIM:619737 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Speech apraxia, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure, Hy... |
ORPHA:163721 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Seizure, Athetosis, Gait disturb... |
OMIM:618241 |
Autosomal Dominant Epilepsy With Auditory Features |
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Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Ataxia, Myoclonus |
OMIM:254800 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized-onset seizure, Facial palsy, Tremor, Degeneration of anterior horn cells, Myoclonus, ... |
OMIM:159950 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus cal... |
OMIM:615771 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... |
OMIM:615924 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Bradykinesia, Seizure,... |
ORPHA:329284 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Mucolipidosis Iv |
|
Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum, Babinski sign, Optic atrophy, ... |
OMIM:252650 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Hyperintensity of cere... |
ORPHA:521406 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturbance, Myoclonus, Truncal ataxia... |
ORPHA:363710 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Hypoplasia of the corpus callosum... |
OMIM:616494 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Abn... |
ORPHA:254930 |
Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Microcephaly, Seizure, Myoclonic absence seizure |
OMIM:612621 |
Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Decreased nerve ... |
ORPHA:99948 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Hydrocephalus, Short stature, Ataxia |
ORPHA:1532 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
Sarcosinemia |
|
Optic atrophy, Tetraparesis, Ataxia, Bilateral tonic-clonic seizure |
ORPHA:3129 |
Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Generalized-onset seizure, Focal hyperkinetic seizure, Multifocal seizu... |
ORPHA:77299 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Microcephaly, Tremor, Inability to walk, Rigidit... |
OMIM:618877 |
Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Pseudobulbar paralysis, Polymicrogyria, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Short stature, Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Abnormal pyramid... |
OMIM:614833 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Seizure, Ataxia, Abnormal cerebral white matter morphology |
OMIM:618951 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Bilateral tonic-clonic seizure, Ataxia, Severe demyelination of the white matter, Inability to wa... |
ORPHA:481152 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Epileptic spasm, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure,... |
OMIM:617193 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Retinal detachment, Optic nerve hypoplasia, Clonus, Microcephaly, Hypopl... |
ORPHA:370959 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Cerebral calcification, Microcephaly, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dy... |
OMIM:261630 |
Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... |
OMIM:615369 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Bilateral tonic-clonic seizure, Microcephaly, Tremor, ... |
OMIM:617988 |
Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Bilateral tonic-clonic seizure, Ataxia, Corpus callosum atrophy, Focal-onset seizure, Typical abs... |
ORPHA:168491 |
Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Microcephaly, Focal-onset seizure, Clonic... |
OMIM:617935 |
Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... |
OMIM:254770 |
Aminoacylase 1 Deficiency |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Cerebral atrophy, Seizure, Cerebral cort... |
OMIM:609924 |
Familial Infantile Myoclonic Epilepsy |
|
Thick cerebral cortex, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clo... |
ORPHA:352582 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Seizure, Abnormal cerebral wh... |
ORPHA:466768 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Hypointensity of cerebral white matter on MRI, Seizure precipitated by febrile infection, Bilater... |
ORPHA:363549 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Aicardi-Goutieres Syndrome 6 |
|
Cerebral calcification, Microcephaly, Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulat... |
OMIM:615010 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Multifocal seizures, Ataxia, Involuntary movements, Microcephaly, Delayed myelination, Choreoathe... |
OMIM:615905 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Cer... |
ORPHA:98762 |
Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, Slurred speech, Focal clonic seizure, Episodic ata... |
ORPHA:140927 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence... |
ORPHA:79137 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Unsteady gait, Slurred speech, Babinski sign, Dysmetria, Gait ataxia, Clumsiness, Nonpr... |
ORPHA:453521 |
Pontocerebellar Hypoplasia, Type 3 |
|
Optic disc pallor, Short stature, Reduced cerebral white matter volume, Hypoplasia of the pons, O... |
OMIM:608027 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Seizure, Gait disturbance, Myoclonu... |
OMIM:607822 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Limb dystonia, Intrauterine growth retardation, Thin corpus callosum |
OMIM:620270 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Hyperintensity of cer... |
OMIM:272300 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to w... |
OMIM:619653 |
Unilateral Focal Polymicrogyria |
|
Intracerebral periventricular calcifications, Bilateral tonic-clonic seizure with focal onset, Si... |
ORPHA:268947 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large peripheral myelinated... |
OMIM:208920 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Short stature, Bilateral tonic-clonic seizure, Clonus, Spastic tetraparesis, R... |
ORPHA:423479 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Loss of ambulation, Seizure, Abnormal cerebral white matter morphology, Limb hypertonia, Decrease... |
ORPHA:565624 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Abnormal brainstem MRI signal intensity, Abnormal pyramidal tract morphology, Babinski si... |
ORPHA:83629 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Hypoplastic optic chiasm,... |
OMIM:210000 |
Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Epileptic spasm, Ataxia, Cortical dysplasia, Atrophy/Degeneration affecting the brainstem, Spasti... |
OMIM:619971 |
Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Infantile spasms, Microcephaly, Tremor, Growth delay, Spasticity |
OMIM:278780 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Macular coloboma, Infantile spasms, Severe demyelination of the white matter, Microcephal... |
ORPHA:79282 |
Developmental And Epileptic Encephalopathy 106 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Postnatal growth retardation, Mi... |
OMIM:620028 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Short stature, Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelina... |
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 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Segmental peripheral demyelination/remy... |
ORPHA:255210 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Epileptic spasm, Cerebral white matter atrophy, Short stature, Bilateral tonic-clonic seizure, Ab... |
ORPHA:79351 |
Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
Peho Syndrome |
|
Optic atrophy, Seizure, Myoclonus, Peripheral dysmyelination, Hypoplasia of the corpus callosum, ... |
OMIM:260565 |
Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Secondary microcephaly, Bilateral tonic-clonic seizure, Atonic seizure |
OMIM:309530 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Generalized-onset seizure, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fin... |
ORPHA:79263 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, In... |
ORPHA:139396 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Infantile spasms, Tremor, Inability to walk, Loss of ambulation,... |
ORPHA:3095 |
Pontocerebellar Hypoplasia, Type 11 |
|
Broad-based gait, Short stature, Ataxia, Microcephaly, Hypoplasia of the pons, Inability to walk,... |
OMIM:617695 |
Cln5 Disease |
|
Generalized-onset seizure, Ataxia, Abnormal central motor function, Tremor, Focal-onset seizure, ... |
ORPHA:228360 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Posterior atrophy of corpus callosum, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth del... |
OMIM:619422 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Lower limb spasticity, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Abnormal... |
ORPHA:320365 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Abnormal cerebral ... |
OMIM:608703 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Progressive spastic pa... |
ORPHA:329308 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Cerebral calcification, Bilateral tonic-clonic seizure, Facial-ling... |
OMIM:617281 |
Developmental And Epileptic Encephalopathy 5 |
|
Reduced cerebral white matter volume, Microcephaly, Spastic tetraplegia, Cerebral atrophy, CNS hy... |
OMIM:613477 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Delayed CNS myelination, Broad-based gait, Ataxia, Inability to walk, Dela... |
OMIM:617854 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral white matter atrophy, Cerebral palsy, Bilateral tonic-clonic seizure with generalized on... |
OMIM:618451 |
Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Steppage gait, Onion bulb formation |
OMIM:614455 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Delayed CNS myelination, Multifocal seizures, Ataxia, Diffuse cerebral atrophy, Tremor, Optic atr... |
OMIM:617710 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Macular d... |
OMIM:164500 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, ... |
OMIM:619580 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Microcephaly, Chorea, Seizure, Focal impaired awareness seizure, ... |
OMIM:613970 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spastic ataxia, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Rigidity, Abnormal pyra... |
ORPHA:199354 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Inability to walk, Delayed myelination, Growth dela... |
ORPHA:488613 |
Bilateral Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, 4-layered lissencephaly, Infantile spa... |
ORPHA:268940 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination |
ORPHA:401835 |
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) seizure, Seizure, H... |
OMIM:616281 |
Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure |
OMIM:616341 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Hypertonia, Sec... |
OMIM:617290 |
Behavioral Variant Of Frontotemporal Dementia |
|
Bilateral tonic-clonic seizure, Frontotemporal cerebral atrophy, Abnormal cerebral white matter m... |
ORPHA:275864 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Micro... |
OMIM:618235 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia, Sensory axonal neu... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure,... |
ORPHA:395 |
Developmental And Epileptic Encephalopathy 28 |
|
Cerebral calcification, Microcephaly, Rigidity, Delayed myelination, Optic atrophy, Simplified gy... |
OMIM:616211 |
Lopes-Maciel-Rodan Syndrome |
|
Caudate atrophy, Tremor, Unsteady gait, Abnormal pyramidal sign, Cerebral atrophy, Ankle clonus, ... |
OMIM:617435 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Microcephaly, Tremor, Growth delay, Seizure, Choreoathetosis, Dystonia, Oculomotor apraxi... |
OMIM:612716 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Generalized-onset seizure, Ataxia, Postnatal growth retardation, Inability... |
ORPHA:357058 |
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts |
|
Pachygyria, Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:617643 |
Canavan Disease |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Abnormal pyramidal ... |
OMIM:271900 |
Cach Syndrome |
|
Microcephaly, Dysmyelinating leukodystrophy, Atrophy/Degeneration affecting the brainstem, Optic ... |
ORPHA:135 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Seizure, Pigmentary retinopathy, Status epilept... |
OMIM:614307 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Microcephaly, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth d... |
OMIM:252150 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Tremor, Seizure, Hyperkinetic moveme... |
ORPHA:457240 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Gait disturbance, Tongue fasciculations, Fasciculations, Abnormal sens... |
ORPHA:276435 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Dys... |
OMIM:619028 |
Hereditary Methemoglobinemia |
|
Microcephaly, Delayed myelination, Spastic tetraplegia, Temporal cortical atrophy, Seizure, Athet... |
ORPHA:621 |
D-Glyceric Aciduria |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Microcephaly, Sp... |
OMIM:220120 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Microcephaly, Postnatal growth retardation... |
OMIM:614222 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Ataxia, Frequent falls, Tr... |
ORPHA:206443 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Clonus, Microcephaly, Tremor, Hypoplastic anterior limbs of... |
OMIM:615673 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Atrophy/Degeneration affect... |
OMIM:619862 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Short stature, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Hypo... |
OMIM:610185 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Focal T2 hypointense basal ganglia lesion, Seizure, Progressive ... |
ORPHA:139485 |
Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Short stature, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia... |
OMIM:614831 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Tremor, Rigidity, Leukoencephalopathy, Seizure... |
OMIM:603472 |
Developmental And Epileptic Encephalopathy 108 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... |
OMIM:620115 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Tremor, Involuntary movements, Or... |
ORPHA:454887 |
Juvenile Absence Epilepsy |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:1941 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Broad-based gait, Ataxia, Clonus, Demyelinating motor neuropathy, Unsteady gait, Abnormal pyramid... |
OMIM:616479 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Hydrocephalus, Generalized non-motor... |
OMIM:300558 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Clonus, Incoordina... |
ORPHA:480864 |
Developmental And Epileptic Encephalopathy 90 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Babinski sign, Cerebral atrophy, Ankle clonu... |
OMIM:301058 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Neurofibrillary tangles, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykines... |
OMIM:610217 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Abnormal caudat... |
ORPHA:79139 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormal brainstem morphology, Se... |
ORPHA:79279 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Primary microcephaly, Optic atrophy, Tetraplegia, Spastic... |
ORPHA:496641 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Periventricular cysts, Seizure, Hypoplasia of the brainstem, Hypoplasia of the corpus cal... |
ORPHA:255138 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, CNS hypomyelinat... |
ORPHA:309155 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Developmental And Epileptic Encephalopathy 32 |
|
Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3... |
OMIM:616366 |
Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... |
OMIM:607745 |
Intellectual Developmental Disorder With Seizures And Language Delay |
|
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure |
OMIM:619000 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainste... |
ORPHA:88619 |
Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evo... |
OMIM:607876 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclon... |
OMIM:600721 |
Neuromuscular Oculoauditory Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Decreased nerve conduction velocity, Chorioreti... |
OMIM:618733 |
East Syndrome |
|
Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Inability to walk, Seizure, Peri... |
ORPHA:199343 |
Migraine, Familial Hemiplegic, 2 |
|
Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ataxia, Hemiparesis,... |
OMIM:602481 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Seizure, Abnormality of macular pigmentation, My... |
ORPHA:97229 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Demyelinating sensory neuropathy, Optic nerve hypoplasia, De... |
ORPHA:101085 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Microcephaly, Tremor, Inability to walk, Seizure, Hypertonia |
OMIM:619556 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Parapar... |
OMIM:615157 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Epileptic spasm, Hypoplasia of the pons, Primary microcephaly, Partial agenesis of the corpus cal... |
ORPHA:500144 |
Houge-Janssens Syndrome 3 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with foca... |
OMIM:618354 |
Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
Microhydranencephaly |
|
Short stature, Generalized myoclonic seizure, Microcephaly, Spastic tetraplegia, Growth delay, At... |
OMIM:605013 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Basal ganglia calcification, Babinski sign, Optic a... |
OMIM:616505 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy |
OMIM:614116 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Dystonic gait, Confluent hyperin... |
ORPHA:280210 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Delayed CNS myelination, Short stature, Bilateral tonic-clonic seizure, Retinal dystrophy, Microc... |
OMIM:615802 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Myoclonus, Genera... |
OMIM:612016 |
Febrile Seizures, Familial, 11 |
|
Hippocampal atrophy, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:614418 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia... |
OMIM:213200 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell... |
OMIM:618060 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Clonic seizure, Hypertonia, Leukodystrophy, Chorioretinal coloboma, Intention tremor, Ata... |
OMIM:619475 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Atrop... |
ORPHA:98759 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Hyperintensity of cerebral white ma... |
ORPHA:101 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Oromandibular dystonia, Opisthotonus, Limb dystonia, Parkinsonism, Clumsine... |
OMIM:617013 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Inability to walk, Primary microc... |
ORPHA:457351 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Focal-onset seizure, Bilateral tonic-clonic seizure |
OMIM:615942 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Bilateral tonic-clonic seizure, Microcephaly, Chorea, Cerebral atrophy, Opisthotonus, Thin corpus... |
OMIM:616672 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ... |
ORPHA:478029 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Bilateral tonic-clonic seizure with fo... |
ORPHA:488627 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Basal ganglia cysts, Myoclonus,... |
OMIM:312170 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Appendicular spasticity, Cerebral palsy, Microcephaly, Dysplastic corpus callosum, Simplified gyr... |
OMIM:620001 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Optic disc hypoplasia, Microcephaly, Dysplastic corpus callosum, Se... |
OMIM:619955 |
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Globus pallidus calcification, Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal... |
OMIM:620292 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Basal ganglia calcifi... |
OMIM:278800 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Diffuse cerebral atrophy, Ataxia, Periventricular white matter hypodensities, Microcephaly, Delay... |
ORPHA:543470 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Writer's cramp, Parkinsonism, Involuntary movements, Abnormal pu... |
ORPHA:157846 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Generalized-onset seizure, Cerebral calcification, Myoclonic seizure, Hypertonia, Neonatal death,... |
OMIM:620024 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly, Bradykinesia, Seizure, S... |
OMIM:619827 |
Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Pachygyria, Bilateral tonic-clonic seizure |
ORPHA:329329 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Microcephaly, Tremor, Abnormal pyramidal sign, Aplasia/Hypoplasia of the ... |
ORPHA:765 |
Slc35A2-Cdg |
|
Cerebral white matter atrophy, Short stature, Abnormal midbrain morphology, Infantile spasms, Spa... |
ORPHA:356961 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Epileptic spasm, Microcephaly, Hypoplasia of the pons, Optic atrophy, Si... |
OMIM:617669 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Retinal atrophy, Ataxia, Retinal dystrophy, Head titubation, Abnormal brainstem morphology, Oculo... |
ORPHA:370022 |
Ethylmalonic Encephalopathy |
|
Abnormal basal ganglia MRI signal intensity, Ataxia, Abnormal brainstem MRI signal intensity, Abn... |
ORPHA:51188 |
Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Bilateral tonic-clonic seizure with generalized onset, Ataxia, Microcephaly, Tremor, Focal-onset ... |
OMIM:619092 |
Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:99014 |
Systemic Primary Carnitine Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clumsiness |
ORPHA:158 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Lateral ventricle dilatation, Difficulty walking... |
ORPHA:306669 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Partial agenesis of the corpus callosum, Simplified gyral pattern, Large basal ganglia, Hypoplasi... |
ORPHA:300570 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Multifocal seizures, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Cerebra... |
ORPHA:572798 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Waddling gait, Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Microcephaly, Chore... |
ORPHA:369840 |
Early Infantile Epileptic Encephalopathy |
|
Diffuse cerebral atrophy, Tremor, Diffuse white matter abnormalities, Choreoathetosis, Pachygyria... |
ORPHA:1934 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Communicating hydrocephalus, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, In... |
ORPHA:25 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Microcephaly, Delayed myelination, Seizure, Hyp... |
ORPHA:544503 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati... |
ORPHA:320375 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, ... |
OMIM:137440 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Inability to walk, Abnormality of the seventh cranial nerve, Limb fasciculations, Abnorma... |
ORPHA:90117 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia |
OMIM:612126 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Joubert Syndrome 33 |
|
Cone/cone-rod dystrophy, Delayed CNS myelination, Ataxia, Oculomotor apraxia, Molar tooth sign on... |
OMIM:617767 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sig... |
OMIM:616840 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Multifocal seizures, Clonus, Infantile spasms, Involuntary movements, Re... |
OMIM:620352 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Seizure, Abno... |
OMIM:300894 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Microcephaly, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hyp... |
OMIM:261640 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hemiplegia/hemiparesis, Hydrocephalus, Seizure, Ho... |
ORPHA:2182 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Ataxia, Morning glory anomaly, Corpus callosum atrophy, Basal ganglia calcification, Atrophy/Dege... |
ORPHA:98673 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
Cataract-Ataxia-Deafness Syndrome |
|
Short stature, Ataxia, Tremor, Decreased nerve conduction velocity, Hypertonia |
ORPHA:1368 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Amish Lethal Microcephaly |
|
Bilateral tonic-clonic seizure, Spina bifida, Microcephaly, Optic atrophy, Lissencephaly, Agenesi... |
ORPHA:99742 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Short stature, Dysplastic corpus callosum, CNS hypomyelination, Seizure, Secondary microcephaly, ... |
OMIM:619423 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure |
OMIM:618856 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Bilateral tonic-clonic seizure, Optic nerve hypoplasia, Focal clonic seizure, Hypoplasia of the c... |
OMIM:618381 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Encephalomalacia, Abnormal optic nerve morphology, Leukodystrophy, Focal... |
ORPHA:506 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal motor seizure, Com... |
OMIM:619338 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Sei... |
ORPHA:3077 |
Cockayne Syndrome A |
|
Retinal atrophy, Short stature, Abnormal peripheral myelination, Ataxia, Microcephaly, Tremor, Ba... |
OMIM:216400 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Joubert Syndrome 7 |
|
Encephalocele, Retinal dystrophy, Ataxia, Brainstem dysplasia, Hypoplasia of the brainstem, Oculo... |
OMIM:611560 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Clonus, Reduced cerebral white matter volume, Tremor, Clonic seizure, Cortical d... |
OMIM:615574 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Periventricular cysts, Sp... |
ORPHA:363722 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Developmental And Epileptic Encephalopathy 8 |
|
Frontal polymicrogyria, Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizu... |
OMIM:300607 |
Sandhoff Disease |
|
Exaggerated startle response, Orthostatic hypotension, Ataxia, Bilateral tonic-clonic seizure, My... |
OMIM:268800 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Axonal loss, Steppage gait, Gait disturbance |
OMIM:118300 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Microcephaly, Tremor, Babinski sign, Spastic para... |
OMIM:300055 |
Autosomal Recessive Ataxia, Beauce Type |
|
Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting the brainstem, Babinski sign, Dysme... |
ORPHA:88644 |
Developmental And Epileptic Encephalopathy 95 |
|
Delayed CNS myelination, Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Microcephal... |
OMIM:618143 |
Melas |
|
Peripheral axonal neuropathy, Abnormal central motor function, Short stature, Bilateral tonic-clo... |
ORPHA:550 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, Seizure, Myoclonus, Fe... |
OMIM:616973 |
Spontaneous Periodic Hypothermia |
|
Ataxia, Tremor, Aplasia/Hypoplasia of the corpus callosum, Seizure, Gait disturbance |
ORPHA:29822 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607628 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Short stature, Babinski sign, Cerebral atrophy, Gait ataxia, Atrophy/Degeneration affecting the b... |
ORPHA:445062 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Short stature, Gait imbalance, Bilateral tonic-clonic seizure |
OMIM:618120 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Microcephaly, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Seizure, Dystonia, Spast... |
OMIM:617664 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased... |
OMIM:162400 |
3-Methylglutaconic Aciduria, Type Viia |
|
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic sei... |
OMIM:619835 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:607681 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus, Seizure, Gait disturbance, O... |
ORPHA:220497 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Abnormal brainstem morphology, Seizure, Chorioretinal coloboma, Abnormal cerebral ... |
ORPHA:163961 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Microcephaly, Tremor, Rigidity, Growth delay, Seizure, Bradyki... |
ORPHA:70594 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Hypoplasia of the pons, Hypertonia, Ne... |
OMIM:615501 |
Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Ataxia, Retinal dystrophy, Aganglionic megacolon, Tremor, Hydrocephalus, Seizure, ... |
ORPHA:220493 |
Acute Disseminated Encephalomyelitis |
|
Hypointensity of cerebral white matter on MRI, Ataxia, Involuntary movements, Abnormal brainstem ... |
ORPHA:83597 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Generalized-onset seizure, Ataxia, Microcephaly, Tremor, Poor coordination, Gait disturbance, Eat... |
ORPHA:544254 |
Ritscher-Schinzel Syndrome 4 |
|
Short stature, Ataxia, Bilateral tonic-clonic seizure, Focal-onset seizure, Chorea, Athetosis, Ag... |
OMIM:619435 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Hypertonia, Gait disturbance, Photosensitive myoclonic seizure, Cerebral c... |
ORPHA:1192 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Neurofibrillary tangles, Seizure, Hypertonia, Myoclonus, Apraxia, Oculomoto... |
ORPHA:1020 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Foc... |
OMIM:619854 |
Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
Developmental And Epileptic Encephalopathy 100 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-o... |
OMIM:619777 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Myoclonic-Astatic Epilepsy |
|
Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se... |
ORPHA:1942 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Short stature, Microcephaly, Tremor, Seizure, Abnormal cerebral white matter morphology, Hyperkin... |
OMIM:300957 |
Cockayne Syndrome B |
|
Severe short stature, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potential... |
OMIM:133540 |
1Q44 Microdeletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Optic disc hypoplasia, Microcephaly, Hydrocephalus... |
ORPHA:238769 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Delayed CNS myelination, Spastic tetraparesis, Dysplastic corpus callosum, Babinski sign, Leukoen... |
OMIM:614924 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:99949 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Agenesis of corpus callosum, Action tremor |
OMIM:231950 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Short stature, Bilateral tonic-clonic seizure with focal onset... |
OMIM:614947 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Steppage gait, Abnormal peripheral myeli... |
ORPHA:168563 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Microcephaly, Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, ... |
OMIM:616586 |
Epilepsy, Familial Temporal Lobe, 6 |
|
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... |
OMIM:615697 |
Leukoencephalopathy With Ataxia |
|
Choroidal neovascularization, Optic neuropathy, Chorioretinal atrophy, Leukoencephalopathy, Limb ... |
OMIM:615651 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, Ab... |
ORPHA:99027 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Short stature, Bilateral tonic-clonic seizure, Aganglionic megacolon, Microcephaly, Inability to ... |
OMIM:614207 |
Joubert Syndrome 2 |
|
Encephalocele, Ataxia, Retinal dystrophy, Brainstem dysplasia, Hydrocephalus, Optic disc coloboma... |
OMIM:608091 |
Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism |
|
Bilateral tonic-clonic seizure, Retinal dystrophy, Tonic seizure, Myoclonic seizure, Focal impair... |
OMIM:619983 |
Saccharopinuria |
|
Short stature, Tremor, Spastic diplegia, Gait ataxia, Seizure |
ORPHA:3124 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Intellectual Developmental Disorder, Autosomal Recessive 41 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:615637 |
Mercaptolactate-Cysteine Disulfiduria |
|
Bilateral tonic-clonic seizure |
OMIM:249650 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Generalized-onset seizure, Ataxia, Dystonia, Microcephaly, Tremor, Partial agenesis of the corpus... |
OMIM:220111 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Dysplastic corpus callosum, Cerebral atrophy, Seizure, Hypoplasia of the corpus callosum, Abnorma... |
OMIM:616900 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Diffuse cerebral atrophy, Ataxia, Short stature, Poor motor coordination, Tremor, Dysmetria, Gait... |
ORPHA:1170 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Microcephaly, Tremor, Inability to walk, Seizure, Spasticity |
OMIM:618718 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Small... |
ORPHA:2388 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Megalencephaly, Rigidity, Cogwheel rigidity, Bradykinesia, Seizure,... |
OMIM:311510 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617468 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Reduced cerebral white matter volume, Microcephaly, Growth delay, Seizure, Abnorma... |
OMIM:617333 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Short stature, Ataxia, Microcephaly, Tremor, Inability t... |
OMIM:615356 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Bilateral tonic-clonic seizure |
OMIM:240900 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Dk1-Cdg |
|
Short stature, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure, Pr... |
ORPHA:91131 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Chorea, Generalized non-motor (absence) seizure, ... |
OMIM:617600 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Akinesia, Microcephaly, Hydrocephalus, Seizure, Hypoplasia of the brainstem, Hydranencephaly, Int... |
OMIM:225790 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Peripheral axonal neuropathy, Dysplastic corpus callosum, Seizure, Neonatal death, Spasticity |
OMIM:618810 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Bilateral tonic-clonic seizure, Involuntary movements, Microcephaly, Unsteady gait, Generalized n... |
OMIM:617798 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Cavitation of the basal ganglia, Tremor, Rigidity, Chorea, ... |
OMIM:606159 |
Tay-Sachs Disease |
|
Hypointensity of cerebral white matter on MRI, Tremor, Dysmetria, Decerebrate rigidity, Progressi... |
ORPHA:845 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Short stature, Ataxia, Hydrocephalus, Ocular albinism, Abnormal brainstem morphology, Seizure, Hy... |
ORPHA:2720 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Megalencephaly, Microcephaly, Hypoplasia of the pons, Perisylvian p... |
ORPHA:280195 |
Chromosome Xp11.3 Deletion Syndrome |
|
Short stature, Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Pigmentary retinopath... |
OMIM:300578 |
20Q11.2 Microdeletion Syndrome |
|
Intrauterine growth retardation, Brainstem dysplasia |
ORPHA:444051 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Biotinidase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Infantile spasms, Myelopathy, Optic atr... |
ORPHA:79241 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Short stature, Bilateral tonic-clonic seizure, Babinski sign, Seizure, Status epilepticus, Myoclo... |
ORPHA:364028 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Optic atrophy, Vocal ... |
ORPHA:99956 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Retinal dystrophy, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia, Rod-cone dystrophy |
OMIM:614867 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s... |
ORPHA:96 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Aganglionic megacolon, Growth delay, Seizure, Gait distur... |
ORPHA:247262 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Cerebral calcification, Short stature, Ataxia, Retinal telangiectasia, Postnatal growth retardati... |
OMIM:612199 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Hemiparesis, Bilateral tonic-clonic seizure |
OMIM:540000 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Retinal dystrophy, Abnormal brainstem morphology, Abnormal pons morphology, Hypoplasia of the cor... |
ORPHA:370997 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Short stature, Seizure, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal ne... |
OMIM:612780 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Delayed CNS myelination, Partial agenesis of the corpus callosum, Optic nerve dysplasia, Spastic ... |
OMIM:617296 |
New-Onset Refractory Status Epilepticus |
|
Abnormal basal ganglia MRI signal intensity, Seizure precipitated by febrile infection, Bilateral... |
ORPHA:363558 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Short stature, Spastic tetraparesis, Microcephaly, Dysplastic corpus callosum, Simplified gyral p... |
OMIM:619179 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... |
OMIM:615476 |
Pitt-Hopkins-Like Syndrome 1 |
|
Generalized-onset seizure, Ataxia, Bilateral tonic-clonic seizure with focal onset, Cortical dysp... |
OMIM:610042 |
Nivelon-Nivelon-Mabille Syndrome |
|
Severe short stature, Bilateral tonic-clonic seizure, Microcephaly, Focal-onset seizure, Optic di... |
OMIM:600092 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Retinal dystrophy, Tonic seizure, Aquedu... |
OMIM:619512 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure |
OMIM:618832 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Neurofibrillary tangles, Temporal cortical ... |
ORPHA:100070 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Cerebral dysmyelination, Infantile spasms, Tremor, I... |
ORPHA:72 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Growth delay, Hypertonia, Hyperkinetic movements, Dystonia,... |
OMIM:619738 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Focal T2 hyperintense basal ganglia lesion, Bilateral tonic-clonic seizure with focal onset, Foca... |
OMIM:614652 |
Sialidosis Type 1 |
|
Short stature, Ataxia, Tremor, Decreased nerve conduction velocity, Slurred speech, Seizure, Gait... |
ORPHA:812 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic gait |
OMIM:616795 |
Halperin-Birk Syndrome |
|
Generalized-onset seizure, Focal-onset seizure, Inability to walk, Optic atrophy, Spastic tetrapl... |
OMIM:618651 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Spastic paraplegia, Corticospinal t... |
OMIM:307000 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation, Microcephaly, Aqueductal stenosis, Hemiplegia/hemiparesis, S... |
ORPHA:1496 |
Hermansky-Pudlak Syndrome 10 |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Microcephaly, Ocular albinism, Cerebral ... |
OMIM:617050 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Tremor, Delayed myelination, Cessation of head growth, Seizure, Seconda... |
ORPHA:98794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Retinal detachment, Exaggerated startle response, Agyria, Hypoplasia of the pyrami... |
OMIM:253800 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Appendicular spasticity, Cerebral palsy, Short stature, Bilateral tonic-clonic seizure, Spastic t... |
OMIM:620070 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure, Hypodysplasia of the corpus callosum, Postnatal gr... |
OMIM:257300 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Inability to walk, Babin... |
OMIM:128100 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form |
|
Postnatal growth retardation, Hypertonia, Bilateral tonic-clonic seizure, Microcephaly |
ORPHA:79350 |
Ddost-Cdg |
|
Short stature, Tremor, Oromotor apraxia, CNS hypomyelination, Seizure |
ORPHA:300536 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Microcephaly, Babins... |
OMIM:252010 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
Cog8-Cdg |
|
Ataxia, Atrophy/Degeneration affecting the brainstem, Seizure, Myoclonus, Chronic axonal neuropat... |
ORPHA:95428 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Babinski sign, Generalized non-motor (absence) seizure, C... |
OMIM:615398 |
Intellectual Developmental Disorder, X-Linked 98 |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, P... |
OMIM:300912 |
Alternating Hemiplegia Of Childhood |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Seizure, Hypert... |
OMIM:618056 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Delayed CNS myelination, Intracerebral periventricular calcifications, Short stature, Ataxia, Mic... |
OMIM:608885 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Lower limb spasticity, Cerebral palsy, Ataxia, Bilateral tonic-clonic seizure with focal onset, F... |
ORPHA:163681 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Short stature, Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Inabi... |
OMIM:617799 |
Joubert Syndrome 1 |
|
Optic disc pallor, Hemifacial spasm, Ataxia, Retinal dystrophy, Brainstem dysplasia, Microcephaly... |
OMIM:213300 |
Rolandic Epilepsy |
|
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset sei... |
ORPHA:1945 |
Dilated Cardiomyopathy With Ataxia |
|
Bilateral basal ganglia lesions, Lower limb spasticity, Ataxia, Atrophy/Degeneration affecting th... |
ORPHA:66634 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Bilateral tonic-clonic seizure, Infantile spasms, Inability to walk by childhood/ado... |
OMIM:620224 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Secondary microcephaly |
OMIM:616351 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Cerebral white matter atrophy, Ataxia, Tremor, Myelopathy, Rigidity, Leukoencephalop... |
OMIM:617186 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Amyloid deposition in the ... |
OMIM:105210 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic paraplegia, Seizure, Athetosis, Focal imp... |
ORPHA:369929 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
ORPHA:42 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased number of larg... |
ORPHA:298 |
Bohring-Opitz Syndrome |
|
Short stature, Delayed peripheral myelination, Mesomelic/rhizomelic limb shortening, Microcephaly... |
OMIM:605039 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxia, Bradykines... |
ORPHA:93256 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Bilateral tonic-clonic seizure with generalized onset, Short stature, Ataxi... |
ORPHA:354 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Bilateral tonic-clonic seizure |
OMIM:301076 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Growth delay, Seizure, Pigmentary retinopathy |
OMIM:222300 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Bilateral tonic-clonic seizure, Ataxia, Optic neuropathy, Tremor, Optic atrophy, Seizure, Dystoni... |
OMIM:610505 |
Alexander Disease |
|
Cerebral calcification, Ataxia, Facial palsy, Clonus, Megalencephaly, Aqueductal stenosis, Tremor... |
ORPHA:58 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Severe short stature, Agenesis of corpus callosum |
OMIM:616854 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Chorea, Axonal loss, Athetosis, Myoclonus, Oculomotor apraxia, Atonic seizure, Cone/cone-rod dyst... |
ORPHA:404454 |
Joubert Syndrome |
|
Encephalocele, Ataxia, Aganglionic megacolon, Tremor, Hydrocephalus, Aplasia/Hypoplasia of the co... |
ORPHA:475 |
Niemann-Pick Disease, Type C1 |
|
Ataxia, Neurofibrillary tangles, Gait ataxia, Seizure, Dystonia, Cataplexy, Spasticity |
OMIM:257220 |
Webb-Dattani Syndrome |
|
Delayed CNS myelination, Short stature, Bilateral tonic-clonic seizure, Secondary microcephaly, H... |
OMIM:615926 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Microcephaly,... |
OMIM:620066 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Retinal detachment, Agyria, Retinal atrophy, Optic nerve hypoplasia, Mic... |
OMIM:236670 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Ataxia, Infantile spasms, Generalized clonic seizure, Tremor, Dela... |
ORPHA:3008 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Intracerebral periventricular calcifications, Short stature, Ataxia,... |
ORPHA:168577 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Delayed CNS myelination, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral ton... |
OMIM:614231 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Parkinsonism, Akinesia, Neurofibr... |
OMIM:601104 |
Pelger-Huet Anomaly |
|
Mild short stature, Lower limb hypertonia, Seizure, Bilateral tonic-clonic seizure |
OMIM:169400 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure |
ORPHA:453510 |
3P25.3 Microdeletion Syndrome |
|
Cerebral white matter atrophy, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor (abs... |
ORPHA:435638 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Niemann-Pick Disease Type C |
|
Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leuk... |
ORPHA:646 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Neuronal loss in basal ganglia, Postural tremor, Parkinsonism, Ak... |
OMIM:609454 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Microphthalmia, Syndromic 6 |
|
Delayed CNS myelination, Retinal dystrophy, Microcephaly, Aplasia/Hypoplasia of the corpus callos... |
OMIM:607932 |
Classic Phenylketonuria |
|
Cerebral calcification, Microcephaly, Tremor, Paraplegia, Growth delay, Seizure, Hypertonia, Hemi... |
ORPHA:79254 |
Salla Disease |
|
Ataxia, Inability to walk, Growth delay, Seizure, Athetosis, Spasticity |
OMIM:604369 |
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Involuntary movements, Focal hyperkinetic se... |
ORPHA:98784 |
Aceruloplasminemia |
|
Abnormality of retinal pigmentation, Torticollis, Abnormal corpus striatum morphology, Ataxia, Pa... |
ORPHA:48818 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
Familial Cerebral Saccular Aneurysm |
|
Hemiparesis, Seizure, Encephalomalacia, Abnormal brainstem morphology |
ORPHA:231160 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Abnormal optic chiasm morphology, Broad-based gait, Retinal detachment, Short stature, Bilateral ... |
ORPHA:268261 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly |
OMIM:619356 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Intrauterine growth retardation, Dysplastic corpus callosum |
OMIM:620135 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Short stature, Ataxia, ... |
OMIM:256810 |
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology |
|
Neurofibrillary tangles, Seizure, Cerebral cortex with spongiform changes |
OMIM:605055 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dystonia, Tremor, Chorea... |
OMIM:606002 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Bilateral tonic-clonic seizure, Clonus, Infantile spasms, Hypertonia, Seco... |
ORPHA:447997 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Cerebral palsy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Myoclonic seizure, Athetosis... |
OMIM:615474 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, Ataxia, Microcephaly, Tremor, Cerebral atrophy, Opisthotonus, Growth delay, Seizure, ... |
OMIM:616271 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Abnormal myelination, Dystonia, Microcephaly, Rigidi... |
ORPHA:309854 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Short stature, Tremor, Dysmetria, Growth delay, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seiz... |
ORPHA:447753 |
Superficial Siderosis |
|
Ataxia, Unsteady gait, Abnormal pyramidal sign, Slurred speech, Abnormality of the vestibulocochl... |
ORPHA:247245 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal basal ganglia MRI signal intensity, Seizure, Abnormal brainstem MRI signal intensity, Le... |
ORPHA:444013 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclonus, Loss of ambulat... |
OMIM:607426 |
Joubert Syndrome 8 |
|
Optic disc pallor, Occipital encephalocele, Ataxia, Pigmentary retinopathy, Hypertonia, Oculomoto... |
OMIM:612291 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Inability to walk, Dysmetria, Limb ataxia, Growth delay, Pigmentar... |
OMIM:617675 |
Full Nf2-Related Schwannomatosis |
|
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... |
ORPHA:637 |
Glass Syndrome |
|
Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Microcephaly, Seizure, Febrile s... |
OMIM:612313 |
Weaver Syndrome |
|
Delayed CNS myelination, Bilateral tonic-clonic seizure, Absent septum pellucidum, Slurred speech... |
OMIM:277590 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum |
OMIM:616490 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Seizure, Lateral ventri... |
ORPHA:544488 |
Joubert Syndrome With Hepatic Defect |
|
Occipital encephalocele, Ataxia, Tremor, Hydrocephalus, Optic disc coloboma, Aplasia/Hypoplasia o... |
ORPHA:1454 |
Holoprosencephaly 14 |
|
Bilateral tonic-clonic seizure, Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal st... |
OMIM:619895 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Abnormal cerebral white m... |
ORPHA:314404 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Retinal detachment, Simple febrile seizure, Microcephaly, Abnormal brainstem m... |
ORPHA:464311 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Cerebral white matter atrophy, Mild postnatal gr... |
ORPHA:90324 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Postnatal growth retardation,... |
ORPHA:90321 |
Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Limb myoclonus, Febrile seizure (within ... |
ORPHA:64280 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the ve... |
ORPHA:268882 |
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, Hypertonia, Microcephaly |
OMIM:604273 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Decreased nerve conduction velocity, Seizure, Tip-toe gait, Gait ... |
ORPHA:512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Absent septum pellucidum, Hydrocephalus, Op... |
OMIM:615287 |
Alobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Microcephaly, Inability to walk, Hydrocephalus, O... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Abnormal central motor function, Short stature, Microcephaly, Inability to walk, Hydrocephalus, O... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Microcephaly, Inability to walk, Hydrocephalus, O... |
ORPHA:93924 |
Semilobar Holoprosencephaly |
|
Abnormal central motor function, Short stature, Microcephaly, Inability to walk, Hydrocephalus, O... |
ORPHA:220386 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Short stature, Focal white matter lesions |
ORPHA:557003 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Focal polymicrogyria, Microcephaly, Dysplastic corpus callosum, Partial agenesis of the corpus ca... |
OMIM:619103 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased nerve conduct... |
ORPHA:477817 |
Bone Marrow Failure Syndrome 5 |
|
Growth delay, Microcephaly, Short stature, Bilateral tonic-clonic seizure |
OMIM:618165 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Alkuraya-Kucinskas Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Seizure, Hypoplasia of the brainstem, L... |
OMIM:617822 |
Monosomy 18Q |
|
Short stature, Abnormal retinal morphology, Microcephaly, Hydrocephalus, Poor coordination, Diffu... |
ORPHA:1600 |
D-Bifunctional Protein Deficiency |
|
Bilateral tonic-clonic seizure, Cerebral dysmyelination, Corpus callosum atrophy, Decreased nerve... |
OMIM:261515 |
47,Xyy Syndrome |
|
Congenital stationary night blindness, Seizure, Hydrocephalus, Abnormal brainstem morphology |
ORPHA:8 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Dystonia, Cerebral cortical ... |
ORPHA:683 |
Niemann-Pick Disease, Type C2 |
|
Ataxia, Neurofibrillary tangles, Seizure, Dystonia, Cataplexy, Spasticity |
OMIM:607625 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Microcephaly, Dysplastic corpus callosum, Seizure, Status epilepticus, Hypoplasia of the corpus c... |
OMIM:618569 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Paraparesis, Paraplegia, Hemiparesis, Leukodystrophy |
ORPHA:79124 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Hallermann-Streiff Syndrome |
|
Bilateral tonic-clonic seizure, Proportionate short stature, Spina bifida, Microcephaly, Optic di... |
OMIM:234100 |
Tick-Borne Encephalitis |
|
Speech apraxia, Generalized-onset seizure, Incoordination, Facial palsy, Abnormal medulla oblonga... |
ORPHA:297 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Microcephaly |
OMIM:619278 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure |
OMIM:616083 |
Cerebrofacioarticular Syndrome |
|
Short stature, Ataxia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosu... |
ORPHA:314679 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Bilateral tonic-clonic seizure, Ataxia, Apraxia, Generalized myoclo... |
ORPHA:99885 |
Aicardi-Goutières Syndrome |
|
Cerebral calcification, Tremor, Porencephalic cyst, Abnormal pyramidal sign, Multifocal cerebral ... |
ORPHA:51 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Microcephaly, Generalized non-motor (absence) s... |
ORPHA:513456 |
Alzheimer Disease 9, Susceptibility To |
|
Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Cereb... |
OMIM:608907 |
Amoebiasis Due To Free-Living Amoebae |
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Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Abnormal midbrain morphology, Abnorm... |
ORPHA:68 |
Ataxia-Telangiectasia |
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Dystonia, Short stature, Ataxia, Microcephaly, Tremor, Inability to walk, Slurred speech, Choreoa... |
OMIM:208900 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Cerebral atrophy, Seizure, Hypertonia, Myoc... |
OMIM:618426 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Bilateral tonic-clonic seizure, Microcephaly, Postnatal growth retardation, Cerebral atrophy, Gro... |
OMIM:301040 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
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Exaggerated startle response, Tremor, Myoclonic seizure, Fasciculations, Intrauterine growth reta... |
OMIM:620327 |
Hyperlysinemia |
|
Neck hypertonia, Short stature, Poor motor coordination, Simple febrile seizure, Spastic tetrapar... |
ORPHA:2203 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
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Ataxia, Neurofibrillary tangles, Cerebral amyloid angiopathy, Spasticity, Intention tremor |
OMIM:117300 |
Dystonia 13, Torsion, Autosomal Dominant |
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Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Dpagt1-Cdg |
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Epileptic spasm, Generalized myoclonic seizure, Ataxia, Akinesia, Microcephaly, Tremor, Inability... |
ORPHA:86309 |
Mitochondrial Trifunctional Protein Deficiency 2 |
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Neonatal death, Seizure, Bilateral tonic-clonic seizure |
OMIM:620300 |
Gaucher Disease |
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Short stature, Bilateral tonic-clonic seizure, Ataxia, Tremor, Hemiplegia/hemiparesis, Hydrocepha... |
ORPHA:355 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
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Broad-based gait, Short stature, Bilateral tonic-clonic seizure, Ataxia, Generalized myoclonic-at... |
OMIM:614756 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Communicating hydrocephalus, Bilateral tonic-clonic seizure, Megalencephaly, Diffuse white matter... |
ORPHA:457359 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Epileptic spasm, Broad-based gait, Short stature, Involuntary movements, Exagg... |
ORPHA:438213 |
Hartsfield Syndrome |
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Bilateral tonic-clonic seizure, Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, ... |
OMIM:615465 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Facial palsy, Abnormal brainstem MRI signal intensity, Focal-onset seizure, Inability to walk, Ge... |
ORPHA:258 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
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Growth delay, Optic neuritis, Bilateral tonic-clonic seizure |
ORPHA:436159 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure, Reduced cerebral white matter volume, Cerebral ... |
OMIM:280000 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
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Neurofibrillary tangles, Amyotrophic lateral sclerosis |
OMIM:619132 |
Kapur-Toriello Syndrome |
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Dysplastic corpus callosum, Pachygyria, Retinal coloboma, Polymicrogyria |
ORPHA:2328 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Bilateral tonic-clonic seizure, Microcephaly |
OMIM:201475 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Spastic tetraparesis, Micr... |
OMIM:301044 |
W Syndrome |
|
Spasticity, Bilateral tonic-clonic seizure |
ORPHA:2804 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Microcephaly, Focal-onset seizure, Inability to walk, Gro... |
ORPHA:459070 |
Gangliocytoma |
|
Focal-onset seizure, Abnormal brainstem morphology, Ganglioneuroma |
ORPHA:251937 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Oculomotor apraxia, Short stature, Hypoplasia of the corpus callosum, Abnormal myelination |
ORPHA:67045 |
Duplication Of The Pituitary Gland |
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Encephalocele, Lower limb spasticity, Short stature, Abnormal midbrain morphology, Microcephaly, ... |
ORPHA:314621 |
Kinsship Syndrome |
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Short stature, Bilateral tonic-clonic seizure, Spastic tetraparesis, Microcephaly, Focal-onset se... |
OMIM:619297 |
Alzheimer Disease, Familial, 1 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104300 |
Zttk Syndrome |
|
Short stature, Dysplastic corpus callosum, Optic atrophy, Growth delay, Seizure, Abnormal cerebra... |
OMIM:617140 |
Alzheimer Disease 2 |
|
Neurofibrillary tangles, Parkinsonism |
OMIM:104310 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Neurofibrillary tangles, Lateral ventricle dilatation, Apraxia, Lewy bodies, Cerebr... |
OMIM:607485 |
Tyrosinemia Type 2 |
|
Tremor, Seizure, Ataxia, Microcephaly |
ORPHA:28378 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Neurofibrillary tangles, Cerebral cortex with spongiform changes, Parkinsonism |
OMIM:606688 |
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... |
OMIM:301091 |
Lujo Hemorrhagic Fever |
|
Seizure, Bilateral tonic-clonic seizure, Resting tremor, Cerebral edema |
ORPHA:319213 |
Cocaine Intoxication |
|
Bilateral tonic-clonic seizure, Involuntary movements, Tremor, Focal-onset seizure, Atypical abse... |
ORPHA:90068 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Delayed CNS myelination, Broad-based gait, Bilateral tonic-clonic seizure, Optic nerve hypoplasia... |
OMIM:620330 |
Arima Syndrome |
|
Ataxia, Retinal dystrophy, Brainstem dysplasia, Optic atrophy, Growth delay, Hypoplasia of the br... |
OMIM:243910 |
X Small Rings |
|
Growth delay, Seizure, Congenital stationary night blindness, Bilateral tonic-clonic seizure |
ORPHA:96201 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Tremor, Dysplastic corpus callosum, Thick corpus callosum, Seizure, Delay... |
OMIM:300967 |
Chromosome 22Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:615538 |
Meningioma |
|
Papilledema, Hemifacial spasm, Abnormal central motor function, Ataxia, Facial palsy, Focal-onset... |
ORPHA:2495 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Growth del... |
OMIM:223900 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Intrauterine growth retardation, Atonic seizure, Bilateral tonic-clonic seizure |
ORPHA:2976 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Abnormal midbrain morphology, Micr... |
ORPHA:444072 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Generalized-onset seizure, Optic nerve hypoplasia, Proportionate short stature, Dysplastic corpus... |
ORPHA:500150 |
Oliver Syndrome |
|
Intrauterine growth retardation, Bilateral tonic-clonic seizure, Microcephaly |
ORPHA:2920 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Cerebral atrophy, Growth delay, Seizure, Hypertonia, Secondary microcephaly, Hypo... |
OMIM:617248 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
ORPHA:369837 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Bilateral tonic-clonic seizure, Poor coordination, Generalized non-motor (absence) seizure, Seizu... |
ORPHA:466943 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
ORPHA:3044 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Ataxia, Dysplastic corpus callosum, Seizure, Pseudobulbar paralysis, Hypoplasia o... |
ORPHA:466791 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Ogden Syndrome |
|
Torticollis, Generalized-onset seizure, Short stature, Bilateral tonic-clonic seizure, Microcepha... |
OMIM:300855 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Microcephaly, Dysplastic corpus callosum, Intrauterine growth retardation, Spina b... |
OMIM:151050 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Intrauterine growth retardation, Delayed peripheral myelination, Microcephaly |
ORPHA:364577 |
Achondroplasia |
|
Rhizomelia, Megalencephaly, Hydrocephalus, Brain stem compression, Neonatal short-limb short stature |
OMIM:100800 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
African Trypanosomiasis |
|
Abnormal basal ganglia MRI signal intensity, Papilledema, Abnormal central motor function, Involu... |
ORPHA:3385 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure |
ORPHA:466950 |
Alzheimer Disease 4 |
|
Neurofibrillary tangles, Cerebral amyloid angiopathy, Apraxia |
OMIM:606889 |
Listeriosis |
|
Ataxia, Tremor, Abnormal brainstem MRI signal intensity, Hemiparesis, Seizure, Myoclonus |
ORPHA:533 |
Doors Syndrome |
|
Bilateral tonic-clonic seizure, Microcephaly, Optic atrophy, Focal impaired awareness seizure, My... |
ORPHA:79500 |
Witteveen-Kolk Syndrome |
|
Delayed CNS myelination, Short stature, Poor motor coordination, Microcephaly, Dysplastic corpus ... |
OMIM:613406 |
Paget Disease Of Bone 2, Early-Onset |
|
Paraparesis, Tetraparesis, Brain stem compression |
OMIM:602080 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Hyperkinetic movements, Bilateral tonic-clonic seizure, Myoclonic spasms |
ORPHA:73224 |
Orofaciodigital Syndrome Type 14 |
|
Microcephaly, Partial agenesis of the corpus callosum, Retinal coloboma, Hypoplasia of the corpus... |
ORPHA:434179 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bilateral tonic-clonic seizure, Microcephaly, Tremor, Generalized non-motor (absence) seizure, Se... |
OMIM:612474 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Ataxia, Hydrocephalus, Noncommunicating hydrocephalus, Growth delay, B... |
ORPHA:666 |
Orofaciodigital Syndrome Type 2 |
|
Central retinal vessel vascular tortuosity, Short stature, Bilateral tonic-clonic seizure |
ORPHA:2751 |
Sotos Syndrome |
|
Bilateral tonic-clonic seizure, Aganglionic megacolon, Tremor, Poor coordination, Generalized non... |
ORPHA:821 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Kabuki Syndrome 1 |
|
Short stature, Bilateral tonic-clonic seizure with focal onset, Microcephaly, Postnatal growth re... |
OMIM:147920 |
Infantile Sialic Acid Storage Disease |
|
Seizure, Hydrocephalus, Cerebral atrophy |
OMIM:269920 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Short stature, Abnormal midbrain morphology, Seizure, Abnormal autonomic nervous system physiolog... |
ORPHA:293987 |
Degcags Syndrome |
|
Microcephaly, Vocal cord paralysis, Abnormal myelination, Intrauterine growth retardation, Agenes... |
OMIM:619488 |