| 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 |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
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, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... |
OMIM:602433 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:601068 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Gliosis, Axonal degeneration, Degeneratio... |
OMIM:604484 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Giant somatosensory evoked poten... |
OMIM:613608 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... |
ORPHA:208981 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, Myoclonus, Enhancement of the C-... |
OMIM:615127 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Mental Retardation, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia |
OMIM:616410 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
| Continuous Spikes And Waves During Sleep |
|
Dystonia, Focal hemiclonic seizure, Typical absence seizure, Bilateral tonic-clonic seizure, Foca... |
ORPHA:725 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Basal lamina onion bulb form... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:180800 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Axonal regeneration, Decre... |
OMIM:605285 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Mental Retardation, Autosomal Recessive 60 |
|
Delayed myelination |
OMIM:617432 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... |
OMIM:617831 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Distal sensory impairment, Limb ataxia, Gait ataxia |
OMIM:617018 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with visual features, Focal sensory seizure with olfactory features, Bilate... |
OMIM:600512 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Falls, EEG with focal sharp slow ... |
ORPHA:2382 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Decreased nerve con... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Visually-induced seizure, Focal... |
OMIM:614417 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, CNS hypomyelination... |
ORPHA:280234 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrophy, Abnormal upper... |
OMIM:221770 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Impaired vibratory sensation, Gait ataxia, Spasticity |
ORPHA:217012 |
| Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Seizure, Continuous spike and waves during slow sleep, Interict... |
ORPHA:98818 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration, A... |
OMIM:614436 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Gait disturbance, Violent behavior, Rigidity, Frequent falls, Chorea, O... |
ORPHA:216873 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfuncti... |
ORPHA:401901 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
| Developmental And Epileptic Encephalopathy 39 |
|
Cerebral hypomyelination |
OMIM:612949 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Cavitating leukodystrophy |
OMIM:619061 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Bilateral tonic-clonic seizure, Interictal epileptiform activity, Aggressive behavior, ... |
OMIM:619157 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... |
ORPHA:206594 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, To... |
OMIM:615369 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Axonal loss, Cerebellar atrophy, Neurodegeneration, Peripheral demyelination, Cerebral atrophy, C... |
OMIM:617672 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Attention deficit hyperactivity disorder, Inability to walk, Aggressive behavior, Bilateral tonic... |
OMIM:619639 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy |
ORPHA:98916 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, EEG with centrotemporal focal s... |
OMIM:245570 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Myoclonus, Focal impaired ... |
OMIM:618587 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Agoraphobia, Torticollis, Myoclonus, Tremor, Anxiety |
OMIM:159900 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:86909 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Status epilepticus, Atonic seizure, Focal-on... |
OMIM:300088 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, Nocturnal seizures, Inter... |
ORPHA:101046 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Perioral Myoclonia With Absences |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Falls, Chin myoclonus, G... |
ORPHA:139426 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Aggressive behavior, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus |
ORPHA:22 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Dysmetria, Myoclonus, Ataxia, Anxiety, Attention deficit hyperact... |
OMIM:619191 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Axonal de... |
OMIM:608720 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiparesis, Tremor, Ataxia, Hemiplegia, Anxiety |
OMIM:141500 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Dystonia, Myoclonus, Involuntary movements |
OMIM:611092 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ag... |
ORPHA:101039 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Peripheral axonal neuropathy, Decreased motor nerve conduction velocity |
OMIM:610100 |
| Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Normal interictal EEG, Limb myoclonus, Bilateral tonic-clonic seizure... |
ORPHA:306 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia |
OMIM:300660 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Emotional... |
OMIM:615362 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
| Periventricular Nodular Heterotopia 8 |
|
Delayed myelination |
OMIM:618185 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized non-motor (absence) se... |
ORPHA:36387 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Bilateral tonic-clonic seizure, Bradykinesia, Tremor, Ataxia, EEG abnormality, Generali... |
OMIM:617836 |
| Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Delayed CNS myelination |
OMIM:618875 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:607706 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:601170 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Interictal epileptiform ... |
OMIM:254800 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Peripheral demyelination, Decreased number of small ... |
ORPHA:101097 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Irritability, Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:610003 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Peripheral demyelinati... |
OMIM:604168 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Axonal degenerati... |
OMIM:609260 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
| Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Apathy, Bradykinesia, Irritability, Action tremor, Anxiety |
OMIM:606438 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Sudanophilic leukodystrophy, Abnormal CNS myelination, Reduction of oligodendrogli... |
OMIM:312080 |
| Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral tonic-clo... |
OMIM:618873 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Jerk-locked premyoclonus spikes, Bilateral tonic-clonic seizure, EEG with photoparoxysmal respons... |
OMIM:607876 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:300475 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
| Epilepsy, Myoclonic Juvenile |
|
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-moto... |
OMIM:254770 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Aggressive behavior, Myoclonus, Seizure, Eyelid myoclonus, Genera... |
OMIM:618357 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
| Developmental And Epileptic Encephalopathy 26 |
|
Infantile spasms, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Hypsarrhythmi... |
OMIM:616056 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal mot... |
ORPHA:320401 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Krabbe Disease |
|
Optic atrophy, CNS demyelination, Neurodegeneration, Peripheral demyelination, Decreased nerve co... |
OMIM:245200 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Onion bulb formation, Axonal loss, Decreased nerve conduction velocity, Segmental peripheral demy... |
OMIM:601455 |
| Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy, Delayed myelination |
OMIM:614959 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Spinocerebellar Ataxia Type 43 |
|
Cerebellar vermis atrophy, Peripheral axonal neuropathy, Decreased number of large peripheral mye... |
ORPHA:497764 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Apathy, Bradykinesia, Shuffling gait, Falls, Resting tremor, Short stepped shuffling ga... |
ORPHA:306692 |
| Pyridoxine-Dependent Epilepsy |
|
Bilateral tonic-clonic seizure, EEG with generalized epileptiform discharges, Hypsarrhythmia, EEG... |
ORPHA:3006 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Spasticity |
OMIM:616494 |
| Spinocerebellar Ataxia 12 |
|
Parkinsonism, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Actio... |
OMIM:604326 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia, Loss of ability to walk, Unsteady gait |
OMIM:617917 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia, Irritability |
OMIM:261630 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Increased theta frequency activity in EEG, Bilateral tonic-clonic seizure, EEG with spike-wave co... |
OMIM:619000 |
| Dravet Syndrome |
|
Focal hemiclonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired aware... |
OMIM:607208 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
| Episodic Ataxia, Type 9 |
|
Dystonia, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilepti... |
OMIM:618924 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, EEG with centrotemporal foc... |
OMIM:117100 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
CNS hypomyelination, Delayed myelination |
OMIM:616158 |
| Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Familial Focal Epilepsy With Variable Foci |
|
Simple febrile seizure, EEG with focal epileptiform discharges, Bilateral tonic-clonic seizure, N... |
ORPHA:98820 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:615376 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Jeavons Syndrome |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with focal epileptiform discha... |
ORPHA:139431 |
| Unilateral Focal Polymicrogyria |
|
EEG with temporal focal spikes, Abnormality of somatosensory evoked potentials, EEG with occipita... |
ORPHA:268947 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia |
ORPHA:228169 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Unsteady gait, Limb ataxia |
OMIM:615768 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tremor... |
ORPHA:330050 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Dysmetria, Unsteady gait, Truncal ataxia |
OMIM:616127 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:600669 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Aggressive behavior, Falls, Bradykinesia, Spastic tetraplegia, Dista... |
OMIM:617225 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination |
OMIM:614482 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Emotional lability, Parkinsonis... |
ORPHA:71517 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Delayed myelination |
OMIM:616881 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Optic atrophy, Peripheral axonal neuropathy |
OMIM:615035 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Irritability |
OMIM:612126 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Rare Non-Syndromic Intellectual Disability |
|
Dystonia, Bilateral tonic-clonic seizure, Hearing impairment, Seizure, Emotional lability, Diffic... |
ORPHA:101685 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology |
ORPHA:217260 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Aggressive behavior, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity... |
OMIM:612716 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Dysmetria, Tremor, Impaired vibration sensation in the lower limbs, Limb ataxia, G... |
OMIM:610245 |
| Rasmussen Subacute Encephalitis |
|
EEG with focal epileptiform discharges, Interictal epileptiform activity, Focal impaired awarenes... |
ORPHA:1929 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
| Spinocerebellar Ataxia 48 |
|
Parkinsonism, Babinski sign, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Irritability, Anxiety, ... |
OMIM:618093 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
CNS hypomyelination, Delayed myelination |
OMIM:615095 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Leukodystrophy, Abnormal upper motor neuron morphology |
OMIM:607694 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Alexander Disease |
|
Diffuse demyelination of the cerebral white matter |
OMIM:203450 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear/anxiety-related behavior, Bilateral tonic-clonic seizure, Suicidal ideation, Aggres... |
ORPHA:208441 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Aggressive behavior, Poor eye contact, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior, Seizure, Hyperactiv... |
OMIM:271980 |
| Dopa-Responsive Dystonia |
|
Irritability, Panic attack, Abnormal social behavior, Anxiety, Oculogyric crisis, Lethargy, Gait ... |
ORPHA:255 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Aggressive behavior, Bradykinesia, Tremor, Apraxia, Spasticity, P... |
OMIM:612953 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity |
OMIM:618138 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Leukodystrophy |
OMIM:612438 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Dystonia, Rigidity, Bradykinesia, Resting tremor, Parkinsonism, Anxiety |
OMIM:605909 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Axonal degeneration, Decreased number of larg... |
OMIM:208920 |
| Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Optic atrophy, Peripheral demyelination |
OMIM:258650 |
| Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Dystonia, Oromandibular dystonia, Bradykinesia, Tremor, Ankle cl... |
OMIM:617013 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Neurodegeneration, Cerebellar atrophy, Axonal degeneration, Cerebral atrophy |
OMIM:615157 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, Gliosis, CNS demyelination |
OMIM:220111 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, EE... |
OMIM:607681 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, CNS hypomyelination |
ORPHA:369939 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Aggressive behavior |
OMIM:276880 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Delayed myelination |
OMIM:618339 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia, Somatic sen... |
ORPHA:98763 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Rolandic Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), EEG with centrotemporal focal spik... |
ORPHA:1945 |
| Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Impaired vibration sensation ... |
OMIM:600363 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Focal hemiclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilatera... |
OMIM:604403 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Bradykinesia, Tremor, Ataxia, Hypertonia, Irritability, Park... |
OMIM:261640 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Athetosis, Dystonia, Bilateral tonic-clonic seizure, Self-injurious behavior, Aggressive behavior... |
ORPHA:382 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (ab... |
OMIM:607631 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Dysmetria, Tremor, Ataxia |
OMIM:210000 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy |
ORPHA:527497 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Impaired pain sensation, Tongu... |
ORPHA:3095 |
| Cortical Malformations, Occipital |
|
EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Photosensitive myoclonic seizure, Febrile seizure (within the age range of 3 month... |
ORPHA:263516 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
CNS hypomyelination, Delayed myelination |
OMIM:618367 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Corpus callosum atrophy, Gliosis, Leukodystrophy, Symmetric peripheral demyelination |
OMIM:169500 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, Tremor, Inability to... |
OMIM:617810 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Bilateral tonic-clonic seizure, Myoclonus, Hearing impairment, Multifocal epilepti... |
OMIM:609056 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy |
OMIM:608703 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:252320 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Unsteady gait, Limb ataxia, Gait ataxia |
OMIM:213200 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Generalized non-motor (absence) seizure, Morning myoclonic jer... |
OMIM:607682 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, My... |
ORPHA:1941 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Scissor gait, Loss of ambulation, Oromandibular dystonia, Bradykinesia, ... |
ORPHA:521406 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Hand tremor, Aggressive behavior, Tremor, Truncal ataxia, Akinesia, Limb ataxia... |
ORPHA:98764 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure, Splenomegaly |
ORPHA:139406 |
| Developmental And Epileptic Encephalopathy 6B |
|
Dystonia, Focal hemiclonic seizure, Generalized non-motor (absence) seizure, Tonic seizure, Bilat... |
OMIM:619317 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Gait disturbance, Febrile seizure (within the age range of 3 months to 6 years), Loss of ambulati... |
ORPHA:206443 |
| Galloway-Mowat Syndrome 5 |
|
Peripheral demyelination, Brain atrophy |
OMIM:617731 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... |
OMIM:604320 |
| Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Generalized myoclonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure |
OMIM:616341 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Aggressive behavior, Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Broad-based gait |
OMIM:619470 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Postural tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic med... |
OMIM:606324 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Fasciculations, Tremor, Inability to walk, Tongue fasciculations, Impaired dist... |
ORPHA:276435 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Aggressive behavior, Abnormality of extrapyramidal motor function, Bradykines... |
OMIM:300894 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal atonic seizure, EEG with focal epileptiform discharges, Infantile spasms, Bilateral tonic-c... |
ORPHA:101071 |
| Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination |
OMIM:619328 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:619224 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Leukodystrophy, Delayed myelination |
OMIM:617613 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Peripheral demyelination |
OMIM:618237 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Seizure, Focal-onset seizure, Anxiety, EEG with spike-wave complexes, EEG with generalized slow a... |
ORPHA:168491 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear/anxiety-related behavior, Aggressive behavior, Shuffling gait, Lower limb spasticit... |
ORPHA:3077 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination |
OMIM:615281 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Developmental And Epileptic Encephalopathy 93 |
|
CNS hypomyelination |
OMIM:618012 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity |
ORPHA:101082 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Apathy, Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to ... |
ORPHA:240085 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
EEG with spike-wave complexes (>3.5 Hz), Generalized non-motor (absence) seizure, Bilateral tonic... |
OMIM:609446 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Global brain atrophy, Diffuse cerebellar atrophy, Neurodegeneration, Axonal deg... |
ORPHA:478029 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizur... |
OMIM:619301 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Optic neuropathy, Cerebellar atrophy, Global brain atrophy, Axonal degeneration, D... |
OMIM:616811 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Babinski sign, Dystonia, Rigidity, Choreoathetosis, Writer's cramp, Chorea, Bradykinesia, Larynge... |
OMIM:606159 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Dystonia, Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Abn... |
ORPHA:457205 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Gait disturbance, Bilateral tonic-clonic seizure, Abulia, Aggressive behavior, Apathy, Emotional ... |
ORPHA:275864 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:618369 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Facial palsy, Absent brainstem auditory responses, Seizure, Sensorineural hearing impairment, EEG... |
OMIM:617519 |
| Leukoencephalopathy With Vanishing White Matter |
|
Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Gliosis, Amyotrophic lateral sclerosis, Abnormal lower m... |
OMIM:105550 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Cerebral hypomyelination, Leukodystrophy, Demyelinating motor neuropathy |
OMIM:608804 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Dystonia, Abnormality of somatosensory evoked potentials, Oromandibular dystonia, ... |
ORPHA:52368 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Fatiguable weakness of proximal limb muscles, Limb fasciculations, Tremor, Distal sensory impairm... |
ORPHA:90117 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, CNS demyelination |
OMIM:221820 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Seizures, Benign Familial Neonatal, 2 |
|
Bilateral tonic-clonic seizure, Focal clonic seizure |
OMIM:121201 |
| Kufor-Rakeb Syndrome |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Torticollis, Aggressive behavior, Myoclonus,... |
OMIM:606693 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Irritability, Hyperkinetic movement... |
OMIM:233910 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Dystonia, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizur... |
OMIM:619302 |
| Intellectual Developmental Disorder, X-Linked 1 |
|
Seizure, Aggressive behavior, Atonic seizure, Bilateral tonic-clonic seizure |
OMIM:309530 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity |
OMIM:615284 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Rigidity, Falls, Bradykinesia, Impaired tandem gait, Slurred spe... |
OMIM:300423 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... |
ORPHA:284324 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... |
OMIM:618598 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Atonic ... |
OMIM:609253 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
| Familial Infantile Myoclonic Epilepsy |
|
Gait disturbance, EEG with focal spike waves, Simple febrile seizure, Limb myoclonus, Bilateral t... |
ORPHA:352582 |
| New-Onset Refractory Status Epilepticus |
|
EEG with temporal epileptiform discharges, Seizure precipitated by febrile infection, Bilateral t... |
ORPHA:363558 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Dystonia, Limb hypertonia, Chorea, Resting tremor, Anxiety |
OMIM:606703 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Gait disturbance, Abnormal auditory evoked potentials, Ataxia, Progressive sensori... |
OMIM:125250 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait ataxia |
OMIM:616719 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Parkinsonism With Polyneuropathy |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:619279 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Abnormal social behavior,... |
ORPHA:391417 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadochokinesis, Abnormal p... |
OMIM:617145 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells |
ORPHA:65684 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Axonal loss |
OMIM:614455 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:616172 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
CNS hypomyelination |
OMIM:616577 |
| Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment |
OMIM:600501 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Hand tremor, Chorea, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:613863 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Chorea, Fasciculations, Intention ... |
ORPHA:397946 |
| Leukodystrophy, Hypomyelinating, 10 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:616420 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Cerebellar atrophy, Gliosis |
OMIM:143100 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Febrile seizure (within the age range of 3 months to 6 years), Tonic seizure, Bilateral... |
OMIM:618917 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
|
