| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Vertigo, Benign Recurrent |
|
Gait imbalance |
OMIM:193007 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:606482 |
| Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance |
ORPHA:256 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:214400 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:607734 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Generalized myoclonic seizure, Jerk-locked premyoclonus spikes, EEG with irregular generalized sp... |
OMIM:601068 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating motor neuropathy, Demyelinating s... |
ORPHA:208981 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Gliosis, Degeneratio... |
OMIM:604484 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Hypsarrhythmia, Focal clonic seizure, Tonic seizure, Bilate... |
OMIM:615006 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Focal-onset seizure, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, ... |
OMIM:613608 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, EEG with polyspike wave complexes, Myoclonus, Jerk-locked premyoclonus spikes, Bilateral... |
OMIM:615127 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... |
OMIM:606483 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Hypsarrhythmia, Multifocal epileptiform discharges, Tonic seizure, Bilateral t... |
OMIM:619964 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating motor neuropathy, Demyelinating sensory neuropathy |
OMIM:182815 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... |
OMIM:601596 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Degeneration of anterior horn cells, Peripheral axonal degeneration, Abnormal lower motor neuron ... |
OMIM:602433 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118200 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor, Distal sensory impairment |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Decr... |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... |
OMIM:611228 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure with focal onset, Focal autonomic seizure with palpitations/tachyc... |
OMIM:600512 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Continuous Spikes And Waves During Sleep |
|
EEG with centrotemporal focal spike waves, Aggressive behavior, Typical absence seizure, Seizure,... |
ORPHA:725 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Ataxia, Bilateral ton... |
OMIM:616187 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... |
OMIM:605253 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Onion bulb formation, Peripheral demyelination |
OMIM:615185 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... |
ORPHA:2932 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Impaired vibratory sensation, Spasticity, Tremor |
ORPHA:217012 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Broad-based gait, Spastic paraparesis, Dys... |
OMIM:616053 |
| Null Syndrome |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Demyelinating peripheral neuropathy, D... |
ORPHA:280234 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Delayed speech and language development, Limb dystonia, Myoc... |
OMIM:605407 |
| Developmental And Epileptic Encephalopathy 104 |
|
Seizure, Self-injurious behavior, Hypsarrhythmia, Clonic seizure, Tonic seizure, Bilateral tonic-... |
OMIM:619970 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal motor seizure, Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor, Bilateral tonic... |
OMIM:608105 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:614895 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Delayed speech and language development, Torticollis, Ataxia, Tremor, Hyperkinetic moveme... |
OMIM:618425 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Axonal degeneration/re... |
OMIM:614436 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Gait ataxia, Seizure, EEG abnormality, Generalized myoclonic seizure, Ataxia, ... |
OMIM:617831 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... |
OMIM:607706 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... |
OMIM:605588 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Focal aware seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-i... |
OMIM:614417 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Anxiet... |
ORPHA:401901 |
| Intellectual Developmental Disorder, Autosomal Recessive 60 |
|
Delayed CNS myelination |
OMIM:617432 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Somatic sensory dysfunction, Tremor, Difficulty walking |
ORPHA:423296 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Diffuse peripheral demyelination, Axonal loss, Decreased motor nerve cond... |
ORPHA:206594 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Gliosis, Cerebral atrophy, Caudate atrophy, Abnormal upper motor neuron morphology, ... |
OMIM:221770 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Inertia, Parkinsonism, Rigidity, Limb dystonia, Clum... |
ORPHA:216873 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Anxiety, Dystonia, Fasciculations |
ORPHA:309169 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Focal sensory seizure with visual features, Myoclonus, Interictal epileptiform activity, Bilatera... |
OMIM:615400 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... |
OMIM:145900 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Myoclonic status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, ... |
OMIM:614018 |
| Developmental And Epileptic Encephalopathy 59 |
|
Self-injurious behavior, Inability to walk, Hypsarrhythmia, Multifocal epileptiform discharges, F... |
OMIM:617904 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Impaired social interactions, Torticollis, Myoclonus, Kinetic tremor, Involuntar... |
OMIM:611092 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Aggressive behavior, Falls, EEG abnormality, Focal-onset seizure, Myoc... |
ORPHA:2382 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Multifocal epileptiform discharges... |
OMIM:615369 |
| Dystonia 11, Myoclonic |
|
Anxiety, Writer's cramp, Torticollis, Myoclonus, Tremor, Panic attack, Agoraphobia |
OMIM:159900 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Cavitating leukodystrophy |
OMIM:619061 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Hypsarrhythmia, Generalized myoclonic seizure, Gait disturbance, Focal hemicloni... |
OMIM:618141 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Absence seizure with eyelid myoclonia, EEG with polyspike wave complexes, Truncal at... |
OMIM:618587 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:616494 |
| Developmental And Epileptic Encephalopathy 9 |
|
Aggressive behavior, Focal-onset seizure, Generalized myoclonic seizure, Status epilepticus, Foca... |
OMIM:300088 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy |
OMIM:610100 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Unsteady ... |
OMIM:617917 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Aggressive behavior, EEG abnormality, Status epilepticus, Emotional lability, Bilateral tonic-clo... |
OMIM:617171 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Hemiplegia, Ataxia, Tremor, Anxiety |
OMIM:141500 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Myoclonic seizure, Aggressive behavior, Seizure, Focal-onset seizure, Interictal epileptiform act... |
OMIM:619157 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Status epilepticus, Ataxia |
ORPHA:22 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Aggressive behavior, Typical absence seizure, Seizure, Hypsarrhythmia, Bilater... |
OMIM:616409 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Impaired distal vibration sensation, Spasticity, Postural tremor, Dysdiadochokinesis... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Peripheral demyelination |
OMIM:607736 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... |
ORPHA:101097 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609311 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Tremor by anatomical site, Abnormal pyramidal sign, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Perioral Myoclonia With Absences |
|
Chin myoclonus, Focal seizure with eyelid myoclonia, Falls, Generalized myoclonic seizure, Bilate... |
ORPHA:139426 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Axonal loss, Cerebral atrophy, Cerebellar atrophy, Neurodegeneration, ... |
OMIM:617672 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Typical... |
OMIM:607682 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased number of large periphe... |
OMIM:605285 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus |
OMIM:603204 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Emotional lability, Tremor, Anxiety, Unsteady gait, Dystonia, Bradykin... |
OMIM:128235 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Urocanase Deficiency |
|
Gait ataxia, Aggressive behavior, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Broad-based gait |
OMIM:276880 |
| Developmental And Epileptic Encephalopathy 53 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Convul... |
OMIM:617389 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Peripheral hypomyelina... |
OMIM:604168 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturban... |
ORPHA:363710 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ataxia, Gait disturbance, Bilateral tonic... |
OMIM:616230 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... |
OMIM:302800 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Bilateral tonic-clonic seizure with focal onset, Generalized-onset seizure, Focal-onset seizure, ... |
ORPHA:101046 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Abnormality of peripheral nerve conduction, Decreased amplitude of sensory action potentials, Dec... |
ORPHA:90103 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Gliosis, Amyotrophic lateral sclerosis, Axonal loss |
OMIM:300857 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... |
ORPHA:99953 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Interictal EEG abnormality, EEG with temporal focal spikes, Focal imp... |
ORPHA:98818 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Falls, Apathy, Short stepped shuffling ga... |
ORPHA:306692 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Segmental peripheral demyelination/remyelination, Decreased nerve conductio... |
OMIM:601455 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination, Decreased compound muscle action potential amplitude |
OMIM:618279 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, Bradyki... |
ORPHA:36387 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Myoclonus, Interictal epileptiform activity, Ataxia, Bilateral... |
OMIM:254800 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Aggressive behavior, Inability to walk, Emotional lability, Absent speech, Tremor, Self-mutilatio... |
OMIM:616269 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Generalized clonic seizure, Generalized tonic se... |
ORPHA:306 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Tremor by anatomical site, Abnormal pyramidal sign, Postural tremor... |
ORPHA:98762 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystoni... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Irregular myelin loops, Myelin outfoldings, Facial palsy |
OMIM:601382 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination |
OMIM:619688 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Lissencephaly 10 |
|
Myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic... |
OMIM:618873 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Irritability, Focal impaired awareness seizure, EEG abnormality |
OMIM:610003 |
| Myoclonic Epilepsy, Familial Infantile |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Seizure, Focal-onset ... |
OMIM:605021 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Krabbe Disease |
|
Optic atrophy, CNS demyelination, Diffuse cerebral atrophy, Decreased nerve conduction velocity, ... |
OMIM:245200 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Seizure, Abnorm... |
ORPHA:320401 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Ataxia |
OMIM:617709 |
| Episodic Ataxia, Type 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Typical absence seizure, Truncal a... |
OMIM:613855 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Spastic ataxia, Spastic gait, Spastic dysarthria... |
ORPHA:251282 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Anxiety,... |
OMIM:604326 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Truncal ataxia, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:608636 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Huntington Disease-Like 2 |
|
Chorea, Inertia, Rigidity, Apathy, Action tremor, Anxiety, Irritability, Dystonia, Bradykinesia |
OMIM:606438 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral mye... |
ORPHA:497764 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Intention tremor, Babinski sign, Action tremor, F... |
ORPHA:314978 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Delayed speech and language development, Myoclonus, Ataxia, ... |
OMIM:615924 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Delayed speech and language development, Torticollis, Myoc... |
OMIM:617284 |
| Dravet Syndrome |
|
Myoclonic seizure, Generalized clonic seizure, Focal aware seizure, Generalized myoclonic seizure... |
OMIM:607208 |
| Episodic Ataxia, Type 9 |
|
Seizure, Status epilepticus, Clonic seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clon... |
OMIM:618924 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Multifocal epileptiform discharges, Myoclonus, Status epilepticus, Choreoathetosis... |
OMIM:609056 |
| Developmental And Epileptic Encephalopathy 42 |
|
Myoclonic seizure, EEG abnormality, Focal tonic seizure, Ataxia, Tonic seizure, Bilateral tonic-c... |
OMIM:617106 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Aggressive behavior, Seizure, Self-injurious behavior, Generalized myoclonic seizure, Ataxia, Bil... |
ORPHA:382 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Gait ataxia, Aggressive behavior, Abnormal pyramidal sign, Falls, Resting tremor, Spastic tetrapl... |
OMIM:617225 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Delayed speech and language development, Myoclonus, Tremor, Frequent falls, Dystonia |
OMIM:619647 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Emotional lability, Cranio... |
ORPHA:71517 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Head titubation, Frequ... |
OMIM:611302 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Choreoathetosis, Tonic seizure, Bilateral tonic-cloni... |
OMIM:618396 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
EEG abnormality, Generalized myoclonic seizure, Ataxia, Bilateral tonic-clonic seizure, Tremor, M... |
OMIM:617836 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Limb ataxia, Babinski sign, Dysmetr... |
OMIM:610245 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Ataxia, Jerk-locked premyoclonus spikes, EEG with irregular generalized... |
OMIM:607876 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Inability to walk |
OMIM:619639 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617560 |
| Developmental And Epileptic Encephalopathy 12 |
|
Focal-onset seizure, Hypsarrhythmia, Tonic seizure, Bilateral tonic-clonic seizure, Epileptic spasm |
OMIM:613722 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:600882 |
| Pelizaeus-Merzbacher Disease |
|
Global brain atrophy, Cerebellar vermis atrophy, Sudanophilic leukodystrophy, Optic atrophy, Abno... |
OMIM:312080 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure with focal onset, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... |
OMIM:616056 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Bradykinesia |
OMIM:610297 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, De... |
OMIM:618184 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Aggressive behavior, Seizure, Eyelid myoclonus, Myoclonus, Bilateral tonic-clonic seizure, Genera... |
OMIM:618357 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Limb myoclonus, Abnormal pyramidal sign, Involuntary movements, Rigi... |
ORPHA:240103 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Seizure, Optic atrophy, Inability to walk, Focal-onset seizure, Generalized myoclonic seizure, Oc... |
ORPHA:330050 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Delayed speech and language development, Gait disturban... |
OMIM:618090 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Seizure, Focal-onset seizure, Myoclonus, Ataxia, Emotional lability, Bilateral tonic... |
OMIM:615362 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
EEG with centrotemporal focal spike waves, Bilateral tonic-clonic seizure with focal onset, Seizu... |
OMIM:245570 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology, CNS demyelination |
ORPHA:217260 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Hypsarrhythmia, Interictal EEG abnormality, Multifocal epileptiform discharg... |
ORPHA:98820 |
| Developmental And Epileptic Encephalopathy 43 |
|
Myoclonic seizure, Hypsarrhythmia, Ataxia, Bilateral tonic-clonic seizure, Atonic seizure, Infant... |
OMIM:617113 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Delayed speech and language development, Tremor, Ataxia |
OMIM:619099 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Language impairment |
ORPHA:101075 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Myoclonus, Bilateral tonic-clonic seizure, Infantile ... |
OMIM:616139 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor, Anxiety, Irritabilit... |
OMIM:618093 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Increased theta frequency activity in EEG, EEG with polyspike wave complexes, ... |
OMIM:619000 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Irritability, Dystonia |
OMIM:261630 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, EEG abnormality, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic s... |
OMIM:617391 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Decreased motor nerv... |
OMIM:607831 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Difficulty walking, Anxiety |
OMIM:619191 |
| Developmental And Epileptic Encephalopathy 13 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure wit... |
OMIM:614558 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Inability to walk, Focal-onset seizur... |
OMIM:619317 |
| Developmental And Epileptic Encephalopathy 97 |
|
Delayed speech and language development, Tremor, Inability to walk |
OMIM:619561 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Anxiety, Dystonia, Bradykinesia |
OMIM:605909 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Delayed speech and language development, Apraxia, Gait... |
OMIM:300423 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity, Gait disturbance, Tr... |
OMIM:213600 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Seizure, Suicidal ideation, Bilatera... |
ORPHA:208441 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Delayed speech and language development, Myoclonus, Tremor, Anxiety, Dystonia |
OMIM:619651 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Somatic sensory dysfunction, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive c... |
ORPHA:98763 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Aggressive behavior, Myoclonus, Ge... |
ORPHA:86909 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, CNS hypomyelination |
ORPHA:369939 |
| Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Delayed CNS myelination, Cerebral cortical atrophy, Gliosis |
OMIM:614959 |
| Dopa-Responsive Dystonia |
|
Inability to walk, Upper motor neuron dysfunction, Difficulty walking, Arm dystonia, Lethargy, Sl... |
ORPHA:255 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Aggressive behavior, Impaired social interactions, Hyperkinetic movements, Parkinsonism, ... |
OMIM:619738 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with spike-wave complexes (>3.... |
OMIM:600669 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Spastic gait, Babinski sign, Spastic paraplegia,... |
OMIM:600363 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Leukodystrophy, Symmetric peripheral demyelination, Corpus callosum atrophy, Gliosis |
OMIM:169500 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure |
OMIM:162350 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Inability to walk, Gait disturbance, Upper motor neuron dysf... |
ORPHA:276435 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Delayed myelination, CNS hypomyelination |
OMIM:618367 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Loss of ambulation, ... |
ORPHA:521406 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Leukodystrophy, Onion bulb formation, CNS hypomyelination |
OMIM:610532 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large peripheral myelinat... |
OMIM:208920 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal neuropathy, Optic atrophy |
OMIM:615035 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar vermis atrophy, Brain atrophy, Optic atrophy, Leukodystrophy, Cerebellar atrophy, Corp... |
OMIM:614877 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized clonic seizure, Genera... |
ORPHA:101039 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Gait ataxia, Generalized dystonia, Postural tremor, Parkinsonism, Rigidity, Delayed speech and la... |
ORPHA:101150 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Axonal degeneration, Peripheral axonal neuropathy |
OMIM:620011 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:527497 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Gait imbalance, Seizure, Myoclonus, Generalized myoclonic seizure, Choreoathetosis, Progressive s... |
OMIM:301020 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Rigidity, Apathy, Parkinsonism with favorable response to dopaminergic medication, Tremor,... |
ORPHA:240085 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Aggressive behavior, Delayed speech and language development, Ataxia, Absent speech, ... |
OMIM:300983 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Choreoathetosis, Dystonia |
OMIM:104290 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Limb myoclonus, Chin myoclonus, Op... |
ORPHA:263516 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Seizure, EEG abnormality, Absent brainstem auditory responses, ... |
OMIM:617519 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination |
OMIM:300475 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Delayed speech and language development, Limb ataxia, Incoordination, At... |
OMIM:213200 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Decreased nerve conduction velocity, Axonal degeneration, Degener... |
OMIM:604320 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Delayed speech and language development, Ataxia, Dysmetria, Tremor, Loss of ambulation, Lower lim... |
OMIM:617916 |
| Developmental And Epileptic Encephalopathy 24 |
|
Febrile seizure (within the age range of 3 months to 6 years), Myoclonic seizure, Focal-onset sei... |
OMIM:615871 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Myoclonic seizure, Gait ataxia, Optic atrophy, EEG abnormality, Inability to walk, Bilateral toni... |
OMIM:617810 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Aggressive behavior, Rigidity, Delayed speech and language development, Paraparesis, Myoclonus, A... |
OMIM:612736 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Aggressive behavior, Akinesia, Truncal ataxia, Hand tremor, Limb ataxia, Gait distur... |
ORPHA:98764 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ankle clonus, Abnormal pyramidal sign, Ataxia, Babinski sign, Absen... |
OMIM:618598 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Aggressive behavior, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Diminished motivation, Aggressive behavior, Gait apraxia, Dysdiadochokinesis, Impair... |
OMIM:615157 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Decreased nerve conduction velocity, Peripheral axonal neuropathy |
ORPHA:101082 |
| Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Akinesia, Tremor, Bradykinesia |
OMIM:614203 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with spike-wave complexes (>3.... |
OMIM:607681 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Absent speech |
OMIM:618951 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Resting tremor, Akinesia, Rigidity, Inabili... |
ORPHA:391411 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized-onset seizure, EEG wit... |
ORPHA:1941 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Bilateral tonic-clonic se... |
OMIM:607631 |
| Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Emoti... |
OMIM:606159 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia, Absent speech |
OMIM:616366 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Global brain atrophy, Delayed myelination, Diffuse cerebellar atrophy, Optic neuropathy, Axonal d... |
ORPHA:478029 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Global brain atrophy, Optic atrophy, Delayed CNS myelination, Optic neuropathy, Cerebellar atroph... |
OMIM:616811 |
| Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Delayed speech and language ... |
OMIM:612067 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
| Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination |
OMIM:619328 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Aggressive behavior, Seizure, EEG abnormality, Self-injurious behavior, Generalized myoclonic sei... |
OMIM:271980 |
| Developmental And Epileptic Encephalopathy 93 |
|
CNS hypomyelination |
OMIM:618012 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Focal-onset seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ataxia, Bila... |
OMIM:204300 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic... |
OMIM:616540 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Optic atrophy, Limb ataxia, Ataxia, Bilateral tonic-clonic seizure |
OMIM:614322 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity, Myelin outfoldings |
OMIM:615284 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Resting tremor, Limb hypertonia, Involuntary movements, Myoclonus, Choreoathetosis, Parox... |
OMIM:606703 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination |
OMIM:615281 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Febrile seizure (within the age range of 3 months to 6 years), Seizure, EEG with persistent abnor... |
ORPHA:206443 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Myoclonus, Choreoat... |
OMIM:618497 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Generalized myoclonic seizure, Focal atonic seizure, Bilateral tonic-clonic ... |
ORPHA:101071 |
| Developmental And Epileptic Encephalopathy 30 |
|
Bilateral tonic-clonic seizure, Hypsarrhythmia, Generalized myoclonic seizure, Seizure |
OMIM:616341 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Bilateral tonic-clonic seizure, Myoclonus, Dystonia, Splenomegaly |
ORPHA:139406 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Tremor by anatomical site, Abnormal pyramidal sign, Falls, Deficit in grammar, Par... |
ORPHA:99750 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Epileptic spasm, EEG with polyspike wave complexes, EEG with burst suppression... |
OMIM:619913 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Myoclonic seizure, Chronic neutropenia, Focal-onset seizure, Bilateral tonic-clonic seizure, Infa... |
OMIM:619301 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Chronic neutropenia, Anemia, Focal-onset seizure, Bilateral tonic-clonic seizu... |
OMIM:619302 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Focal motor seizure, Hypsarrhythmia, Multifocal epileptiform discharg... |
OMIM:617711 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxia, Limb ataxia, Gait d... |
OMIM:617145 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... |
OMIM:105550 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Aggressive behavior, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Park... |
OMIM:606693 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Palilalia, Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic ... |
ORPHA:240094 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait, Distal sensory impairment |
OMIM:618387 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy, Irritabilit... |
OMIM:233910 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Hsd10 Disease |
|
Rigidity, Delayed speech and language development, Myoclonus, Choreoathetosis, Abnormal social be... |
ORPHA:391417 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, EEG abnormality, Inability to walk, Bilateral tonic-clonic seizure, Decreased nerv... |
ORPHA:457205 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Delayed speech and language development, Spastic tetraparesis, Tremor, Broad... |
OMIM:619470 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Seizure, EEG abnormality, Torticollis, Bilateral tonic-clonic seizure, Myoclonic absence seizure |
OMIM:612621 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation, Tremor, Language impairment |
ORPHA:99014 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Delayed speech and l... |
OMIM:614831 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617951 |
| Developmental And Epileptic Encephalopathy 41 |
|
Myoclonic seizure, Generalized tonic seizure, EEG abnormality, Inability to walk, Hypsarrhythmia,... |
OMIM:617105 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Fatiguable weakness of proximal limb muscles, Lim... |
ORPHA:90117 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Anxiet... |
OMIM:619279 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Tip-... |
ORPHA:397946 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Onion... |
OMIM:607684 |
| Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Anxiety, Resting tremor, Parkinsonism, Delayed speech and language development, Myoclonus... |
OMIM:619725 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Leukodystrophy, CNS hypomyelination |
OMIM:607694 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Shuffling gait, Resting tremor, Limb dystonia, Myoclonus, Parkinsonism wit... |
ORPHA:53351 |
| Developmental And Epileptic Encephalopathy 47 |
|
EEG abnormality, Inability to walk, Focal-onset seizure, Hypsarrhythmia, Multifocal epileptiform ... |
OMIM:617166 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Delayed speech and language development, Clumsines... |
OMIM:619911 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Delayed myelination |
OMIM:617613 |
| Glut1 Deficiency Syndrome 2 |
|
Choreoathetosis, Ataxia, Tremor, Irritability, Dystonia |
OMIM:612126 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:616172 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Gait ataxia, Self-injurious behavi... |
OMIM:618917 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:621 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia |
ORPHA:101078 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis |
OMIM:143100 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Delayed speech and language development, Exaggerated startle response, Emotional lability |
OMIM:617028 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Irritabilit... |
OMIM:261640 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Leukodystrophy, Cerebral hypomyelination |
OMIM:612438 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Gait disturbance, Progressive sensorineural h... |
OMIM:125250 |
| Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Fasciculations |
ORPHA:65684 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Chorea, Poor fine motor coordination, Spasticity, Myoclonic spasms, Delayed speech and language d... |
ORPHA:79263 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Resting tremor, Abno... |
ORPHA:3077 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Impaired social interactions, Apraxia... |
ORPHA:3095 |
| Spinocerebellar Ataxia Type 25 |
|
Diffuse cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination |
OMIM:614482 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:620023 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Leukodystrophy, Cerebral hypomyelination, Demyelinating motor neuropathy |
OMIM:608804 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
