| 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 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
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 |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular gener... |
OMIM:601068 |
| Developmental And Epileptic Encephalopathy 15 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:615006 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spikes, Tremor, Focal-onset seizure, EEG... |
OMIM:613608 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Degeneration of ante... |
OMIM:604484 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Jerk-locked premyoclonus spike... |
OMIM:615127 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
| Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Multifocal epileptiform discharg... |
OMIM:619964 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... |
OMIM:606483 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Inappropriate behavior, Myoclonus, Dy... |
ORPHA:401901 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... |
OMIM:600512 |
| Epilepsy, Progressive Myoclonic 7 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, EEG with generalized epileptiform discharges, Myo... |
OMIM:616187 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... |
OMIM:617831 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Bilateral tonic-clonic seizure, Visually-induced seizure, Focal impaired awareness seizure, Focal... |
OMIM:614417 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
ORPHA:101046 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Writer's cr... |
OMIM:608105 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... |
OMIM:615400 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... |
OMIM:118200 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Hypertrophic nerve changes, Onion bulb fo... |
OMIM:180800 |
| Continuous Spikes And Waves During Sleep |
|
Dystonia, Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Focal hemiclonic seizu... |
ORPHA:725 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:603204 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Stxbp1-Related Encephalopathy |
|
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, EEG w... |
ORPHA:599373 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu... |
OMIM:614018 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized myoclonic seizure, EEG with polyspike wave complexes, Bilateral tonic-clonic seizure |
OMIM:611364 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Unsteady gait, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Cavitating leukodystrophy |
OMIM:619061 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Cerebral atrophy, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, ... |
OMIM:221770 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
| Developmental And Epileptic Encephalopathy 94 |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with generalized polyspikes, Visually-induced ... |
OMIM:615369 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:118220 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Ataxia, Status epilepticus |
ORPHA:22 |
| Developmental And Epileptic Encephalopathy 67 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... |
OMIM:618141 |
| Developmental And Epileptic Encephalopathy 31A |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Atypical absen... |
OMIM:616346 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic ... |
OMIM:618587 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... |
ORPHA:216873 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... |
ORPHA:139426 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus, Impaired social i... |
OMIM:611092 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Axonal degeneration, Axonal degeneration/regeneration |
OMIM:614436 |
| Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... |
OMIM:605588 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
EEG with polyspike wave complexes, Episodic ataxia, Bilateral tonic-clonic seizure, EEG with spik... |
OMIM:607682 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Bilateral tonic-clonic seizure, EEG with photoparoxysmal response, Limb ataxia, Choreoathetosis, ... |
OMIM:616230 |
| Landau-Kleffner Syndrome |
|
Interictal EEG abnormality, EEG with frontal focal spikes, Bilateral tonic-clonic seizure with ge... |
ORPHA:98818 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Developmental And Epileptic Encephalopathy 104 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Hypsarrhythmia, S... |
OMIM:619970 |
| Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Onion bul... |
OMIM:607706 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:616494 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Myoclonic seizure, Depression, Seizure, Myoclonus |
OMIM:162350 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Developmental And Epileptic Encephalopathy 53 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Hypsarrhythmia... |
OMIM:617389 |
| Developmental And Epileptic Encephalopathy 59 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Tonic seizure, Inability to walk, Multi... |
OMIM:617904 |
| Null Syndrome |
|
Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Ataxia, Generalized non-motor ... |
OMIM:254800 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
EEG abnormality, Emotional lability, Bilateral tonic-clonic seizure, Status epilepticus |
OMIM:617171 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination |
OMIM:611228 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Cerebral atrophy, Axonal loss, Neurodegeneration, Peripheral demyelination, C... |
OMIM:617672 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
| Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Myoclonic Epilepsy, Familial Infantile |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Limb ataxia, Gait ataxia, Impaired t... |
OMIM:605021 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
| Lennox-Gastaut Syndrome |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, EEG abnormality, Falls, Myoclonus, Atypical ... |
ORPHA:2382 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Irritability, Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:610003 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
| Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601098 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Dysmetria, Depression, Myoclonus, Difficulty walking |
OMIM:619191 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
| Benign Familial Infantile Epilepsy |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Simple febrile s... |
ORPHA:306 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, Gait ataxia, Depression, Sei... |
OMIM:615362 |
| Episodic Ataxia, Type 5 |
|
Bilateral tonic-clonic seizure, Ataxia, Typical absence seizure, EEG with generalized spikes, Myo... |
OMIM:613855 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Falls, Gait disturban... |
ORPHA:363710 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Axonal loss, Gliosis |
OMIM:300857 |
| Epilepsy, Myoclonic Juvenile |
|
Bilateral tonic-clonic seizure, EEG with generalized polyspikes, Generalized non-motor (absence) ... |
OMIM:254770 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... |
ORPHA:101097 |
| Lissencephaly 10 |
|
Torticollis, Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic se... |
OMIM:618873 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Seizure, Difficult... |
ORPHA:320401 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
| Developmental And Epileptic Encephalopathy 26 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... |
OMIM:616056 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
| Developmental And Epileptic Encephalopathy 33 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Unsteady gait, Myocloni... |
OMIM:616409 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bilateral tonic-clonic seizure, Tremor, Bradykinesia, EEG abnormality, Dystonia, Generali... |
OMIM:617836 |
| Salt And Pepper Developmental Regression Syndrome |
|
Bilateral tonic-clonic seizure, Optic atrophy, Multifocal epileptiform discharges, Choreoathetosi... |
OMIM:609056 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ... |
ORPHA:71517 |
| Developmental And Epileptic Encephalopathy 74 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... |
OMIM:618396 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
| Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Hypsarrhythmia |
OMIM:613722 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Bilateral tonic-clonic seizure, Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregul... |
OMIM:607876 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres... |
ORPHA:101109 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Depression, Myoclonus, Status epilep... |
OMIM:204300 |
| Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Axonal degeneration, Cerebral atrophy, Peripheral hypomyelination... |
OMIM:604168 |
| Developmental And Epileptic Encephalopathy 43 |
|
Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Myoclonic seizure, Hypsarrhythmia, Atyp... |
OMIM:617113 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-... |
OMIM:619157 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination |
ORPHA:2932 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
| Dravet Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Generalized clonic seizure, Focal hemiclonic seizure, Vis... |
OMIM:607208 |
| Episodic Ataxia, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus, Dysto... |
OMIM:618924 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Akinesia, Trem... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination |
OMIM:619688 |
| Developmental And Epileptic Encephalopathy 9 |
|
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... |
OMIM:300088 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Tremor, Focal-onset seizure, G... |
ORPHA:36387 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... |
OMIM:245570 |
| Developmental And Epileptic Encephalopathy 42 |
|
Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei... |
OMIM:617106 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Peripheral axonal atrophy,... |
OMIM:609260 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia |
OMIM:605909 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Bilateral tonic-clonic seizure, Oculogyric crisis, Tremor, Focal-onset seizure, Inability to walk... |
ORPHA:330050 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Unsteady gait, EEG abnormality, Seizure, Truncal ataxia |
OMIM:608636 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
| Developmental And Epileptic Encephalopathy 54 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, EEG abnormality, Myoclonus, Atypical abse... |
OMIM:617391 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cereb... |
ORPHA:497764 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seiz... |
ORPHA:98820 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Developmental And Epileptic Encephalopathy 27 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Hypsarrhyth... |
OMIM:616139 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
| Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi... |
OMIM:618093 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
| Pelizaeus-Merzbacher Disease |
|
Reduction of oligodendroglia, Cerebral dysmyelination, Sudanophilic leukodystrophy, Optic atrophy... |
OMIM:312080 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:604563 |
| Epilepsy, Idiopathic Generalized |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617560 |
| Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
| Cortical Malformations, Occipital |
|
EEG abnormality, Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Severe demyelination of the white matter, Corpus callosum atrophy, Optic atro... |
OMIM:236792 |
| Krabbe Disease |
|
Diffuse cerebral atrophy, Optic atrophy, Neurodegeneration, CNS demyelination, Peripheral demyeli... |
OMIM:245200 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Axonal loss, Diffuse peripher... |
ORPHA:206594 |
| Epilepsy, Early-Onset, 4, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Clonic seizure, EEG with burst suppression, Status epilepticus, G... |
OMIM:266100 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
| Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
| Developmental And Epileptic Encephalopathy 13 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
OMIM:614558 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Tremor, Inability to walk, Inappropriate laughter, Emotional lability |
OMIM:616269 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology |
ORPHA:217260 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Bilateral tonic-clonic seizure, Intention tremor |
OMIM:617863 |
| Developmental And Epileptic Encephalopathy 6B |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal hemiclonic seizure,... |
OMIM:619317 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation |
OMIM:618184 |
| Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Gait disturbance, Parkinsonism with favorable... |
OMIM:616710 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:249900 |
| Developmental And Epileptic Encephalopathy 24 |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Clonic seizure, Generalized non-moto... |
OMIM:615871 |
| Myoclonic Epilepsy Of Infancy |
|
Bilateral tonic-clonic seizure, Photosensitive tonic-clonic seizure, EEG with irregular generaliz... |
ORPHA:86909 |
| Huntington Disease-Like 2 |
|
Rigidity, Chorea, Depression, Bradykinesia, Irritability, Dystonia, Action tremor |
OMIM:606438 |
| Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
| Alternating Hemiplegia Of Childhood 1 |
|
Choreoathetosis, Bilateral tonic-clonic seizure, Dystonia |
OMIM:104290 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Unsteady gait, Choreoathetosis, Seizure, Myoclonus, Gait ... |
OMIM:301020 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Generalized non-motor (absence... |
OMIM:607681 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy |
ORPHA:99953 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... |
OMIM:604403 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration |
ORPHA:90103 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, CNS hypomyelination |
ORPHA:369939 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... |
OMIM:607631 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Bilateral tonic-clonic seizure, Focal EEG discharges with secondary g... |
ORPHA:263516 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
| Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:614959 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Corpus callosum atrophy, Gliosis, Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Generalized-onset seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:1941 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Bilateral tonic-clonic seizure, Tremor, Inability to walk, Optic atrophy, Generalized non-motor (... |
OMIM:617810 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Bradykinesia, Ankle cl... |
ORPHA:521406 |
| Benign Familial Neonatal-Infantile Seizures |
|
Bilateral tonic-clonic seizure, Tonic seizure, EEG with focal spikes, Focal clonic seizure, Episo... |
ORPHA:140927 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... |
OMIM:600363 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Impaired so... |
OMIM:619738 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Axonal degeneration, Decreased number of large peripheral myelina... |
OMIM:208920 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Inability to walk, Dysmetria, Gait ataxia,... |
OMIM:618090 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto... |
OMIM:617519 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
| Peroxisome Biogenesis Disorder 8B |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Brain atrophy, Leukodystrophy, Periph... |
OMIM:614877 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl... |
OMIM:619301 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:527497 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
EEG with polyspike wave complexes, Bilateral tonic-clonic seizure, Increased theta frequency acti... |
OMIM:619000 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Seizures, Benign Familial Infantile, 3 |
|
Normal interictal EEG, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Periphe... |
OMIM:600882 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... |
OMIM:616172 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination |
OMIM:300475 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Torticollis, Bilateral tonic-clonic seizure, Seizure, EEG abnormality, Myoclonic absence seizure |
OMIM:612621 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration |
OMIM:618138 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Unilateral Hemispheric Polymicrogyria |
|
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, EEG ... |
ORPHA:101071 |
| Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Bilateral tonic-clonic seizure, Decreased nerve conduction velocity, Inability to walk, Optic atr... |
ORPHA:457205 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607831 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cerebellar ... |
OMIM:607250 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Bilateral tonic-clonic seizure, Chronic neutropenia, Infantile spasms, Focal-onset seizure, Myocl... |
OMIM:619302 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Epileptic spasm, Bilateral tonic-clonic seizure, Ataxia, Tonic... |
OMIM:619913 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response... |
ORPHA:240085 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... |
OMIM:618357 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Inability to walk, Myoclonic seiz... |
OMIM:618497 |
| Developmental And Epileptic Encephalopathy 98 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... |
OMIM:619605 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Bilateral tonic-clonic seizure, Myoclonus, Dystonia |
ORPHA:139406 |
| Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination |
OMIM:200100 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Bilateral tonic-clonic seizure, Gait ataxia, Status epilepticus, Myoclonus, Generalized myoclonic... |
OMIM:616540 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, Trem... |
ORPHA:206443 |
| Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Depression... |
OMIM:616795 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
| Developmental And Epileptic Encephalopathy 91 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Unsteady gait, Focal motor seizur... |
OMIM:617711 |
| Seizures, Benign Familial Infantile, 2 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:605751 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
| Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination |
OMIM:619328 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Diffuse cerebellar... |
ORPHA:478029 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
| Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
| Developmental And Epileptic Encephalopathy 11 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus |
OMIM:613721 |
| Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
| Developmental And Epileptic Encephalopathy 47 |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Focal-onset seizure, In... |
OMIM:617166 |
| Developmental And Epileptic Encephalopathy 41 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Inability to walk, Focal tonic seizure, Myocloni... |
OMIM:617105 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure |
OMIM:617080 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101075 |
| Developmental And Epileptic Encephalopathy 30 |
|
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia |
OMIM:616341 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Axonal degeneration, Degeneration of anterior horn cells |
OMIM:604320 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Seizure, Athetosis, Focal impaired awareness seizure, Dys... |
ORPHA:382 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... |
OMIM:105550 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination |
OMIM:615281 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
| Developmental And Epileptic Encephalopathy 63 |
|
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Inability to walk, Co... |
OMIM:617976 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinetic movements, Dystonia, Lethargy, Limb... |
OMIM:233910 |
| Familial Infantile Myoclonic Epilepsy |
|
Interictal EEG abnormality, EEG with focal spike waves, Bilateral tonic-clonic seizure with gener... |
ORPHA:352582 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Bilateral tonic-clonic seizure, Postural tremor, Akinesia, Focal motor seizure, B... |
OMIM:619911 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
| Febrile Seizures, Familial, 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... |
OMIM:609253 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Gait apraxia, Babinski sig... |
OMIM:615157 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Limb dystonia |
OMIM:620270 |
| Developmental And Epileptic Encephalopathy 52 |
|
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Limb ataxia, Seizure, Atypical absence ... |
OMIM:617350 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:617951 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... |
OMIM:616685 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... |
OMIM:617935 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... |
ORPHA:397946 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc... |
ORPHA:90117 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Limb ataxia, Dysm... |
ORPHA:284324 |
| Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials |
ORPHA:99852 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Bilateral tonic-clonic seizure, Myoclonus |
OMIM:604827 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Ataxia, Gait disturbance, Impaired pain sensation |
ORPHA:101078 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:620023 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
| X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... |
ORPHA:53351 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... |
ORPHA:101039 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Leukodystrophy, CNS hypomyelination |
OMIM:607694 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:613863 |
| Huppke-Brendel Syndrome |
|
CNS hypomyelination |
OMIM:614482 |
| Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... |
ORPHA:293181 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Irritability, Bradykinesia, Hypertonia, ... |
OMIM:261640 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
| Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
| Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclonus, Spastic paraparesis, Abno... |
ORPHA:391417 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Spasticity |
OMIM:213200 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
| Huntington Disease |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Gliosis |
OMIM:143100 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Leukodystrophy |
OMIM:612438 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:621 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
| Hyperekplexia-Epilepsy Syndrome |
|
EEG with temporal focal spikes, Exaggerated startle response, Focal impaired awareness seizure, G... |
ORPHA:163985 |
| Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Tremor, Inability to walk, Sensorineur... |
ORPHA:52368 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy |
ORPHA:101111 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
| Developmental And Epileptic Encephalopathy 93 |
|
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... |
OMIM:618012 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy |
OMIM:608804 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation, Brain atrophy |
OMIM:615284 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
| Developmental And Epileptic Encephalopathy 109 |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... |
OMIM:620145 |
| Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
| Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Corpus callosum atrophy, Gliosis, CNS demyelination, Neuronal loss in central nervous system, Glo... |
OMIM:221820 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
| Alg2-Cdg |
|
Cerebral hypomyelination |
ORPHA:79326 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Unsteady gait, Dysmetria, Gait ataxia, Falls, Dystonia |
OMIM:203740 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
| Giant Axonal Neuropathy |
|
CNS hypomyelination |
ORPHA:643 |
| Ddost-Cdg |
|
CNS hypomyelination |
ORPHA:300536 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral hypomyelination, Leukodystrophy, CNS hypomyelination |
OMIM:614381 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Tangier Disease |
|
Facial diplegia, Peripheral axonal neuropathy, Peripheral demyelination |
OMIM:205400 |
| Developmental And Epileptic Encephalopathy 99 |
|
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... |
OMIM:619606 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
CNS hypomyelination |
OMIM:619908 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... |
OMIM:608096 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... |
OMIM:613060 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:604233 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:616420 |
| Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
| Folinic Acid-Responsive Seizures |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:79097 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor |
OMIM:620158 |
| Developmental And Epileptic Encephalopathy 37 |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Choreoathetosis, G... |
OMIM:616981 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601455 |
| Kohlschutter-Tonz Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Myoclonic seizure, Hypsarrhythmia, S... |
OMIM:226750 |
| Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Sp... |
ORPHA:240094 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Onion bulb formation, Facial palsy |
OMIM:607684 |
| Lissencephaly 8 |
|
Cerebral hypomyelination |
OMIM:617255 |
| Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, EEG with burst suppression, Myoclo... |
OMIM:617290 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Tremor, Abnormal fear-indu... |
ORPHA:3077 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Paraparesis, Truncal... |
OMIM:607483 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with generalized slow activity, Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, ... |
ORPHA:168491 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:447896 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Depression, Progressive cerebellar ataxia, Dysdiadochokinesis, My... |
ORPHA:254881 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Developmental And Epileptic Encephalopathy 4 |
|
Epileptic spasm, Bilateral tonic-clonic seizure, Tremor, EEG with burst suppression, Hypsarrhythm... |
OMIM:612164 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Ataxia, Optic atrop... |
OMIM:616881 |
| Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Depression, Bradykinesia, Myoclonus, Tr... |
OMIM:137440 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619286 |
| Developmental And Epileptic Encephalopathy 75 |
|
CNS hypomyelination |
OMIM:618437 |
| Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
| Sarcosinemia |
|
Bilateral tonic-clonic seizure, Ataxia, Optic atrophy, Infantile sensorineural hearing impairment... |
ORPHA:3129 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Emotional lability, Spasticity |
ORPHA:542310 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... |
ORPHA:79137 |
| Retinal Dystrophy With Leukodystrophy |
|
CNS hypomyelination |
OMIM:618863 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... |
ORPHA:79263 |
| Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Abnormal fear-induced behavior, Chorea, Abnormal pyramidal sign, Pr... |
ORPHA:309246 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Choreoathetosis, Episodic ataxia, Bilateral tonic-clonic seizure, Dystonia |
ORPHA:53583 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination |
OMIM:610015 |
| Lafora Disease |
|
Giant somatosensory evoked potentials, Bilateral tonic-clonic seizure, Bilateral tonic-clonic sei... |
ORPHA:501 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Gait disturbance |
ORPHA:99014 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Bilateral tonic-clonic seizure, EEG abnormality, Seizure, Focal impaired awareness seizure, Statu... |
OMIM:613970 |
| Microcephaly-Capillary Malformation Syndrome |
|
Delayed myelination, CNS hypomyelination |
OMIM:614261 |
| Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Gait ataxia, Choreo... |
OMIM:618877 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... |
OMIM:617924 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:619260 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Inability to walk, Depression, Seizure, Hearing impairment |
OMIM:620114 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Inability to ... |
OMIM:618917 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Peripheral demyelination |
OMIM:609033 |
| 4H Leukodystrophy |
|
Cerebral hypomyelination |
ORPHA:289494 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, ... |
OMIM:271245 |
| Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Cerebral atrophy, Axonal loss, Gliosis, Peripheral demyelination |
OMIM:252160 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Slurred speech, Babinski s... |
ORPHA:137898 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Difficulty walking, Myoclonus... |
OMIM:159950 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Bilateral tonic-clonic seizure, Bilateral tonic-clonic... |
OMIM:619428 |
| Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
| Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Hypochromic microcyti... |
ORPHA:3240 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
| Developmental And Epileptic Encephalopathy 66 |
|
Broad-based gait, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618067 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
| Adenylosuccinase Deficiency |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:103050 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Leukodystrophy, CNS hypomyelination |
OMIM:619576 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Paroxysmal dystonia, Bilateral tonic-clonic seizure, Focal hyperkinetic seizure, Increased theta ... |
ORPHA:98784 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Seizure, EEG abnor... |
ORPHA:529665 |
| Bilateral Generalized Polymicrogyria |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Oculogyric crisis, Infantile spasms, F... |
ORPHA:208447 |
| Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination |
OMIM:618186 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
| Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Rigidity, Falls, Difficulty walking, Emotional lability |
ORPHA:3198 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
CNS hypomyelination, Severe demyelination of the white matter |
ORPHA:481152 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
| Seizures, Benign Familial Neonatal, 1 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... |
OMIM:121200 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination |
OMIM:615966 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Gliosis, Cerebral atrophy |
OMIM:615095 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
| Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T... |
OMIM:300607 |
| Cln3 Disease |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Vacuolated lymphocytes, Optic atroph... |
ORPHA:228346 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
| Developmental And Epileptic Encephalopathy 29 |
|
CNS hypomyelination |
OMIM:616339 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
| Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
| Intellectual Developmental Disorder, X-Linked 100 |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure |
OMIM:300923 |
| Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
| Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Depression, Bradykinesia, Inappropriate behavior, Dysto... |
OMIM:168605 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
| Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Abnormal synaptic trans... |
ORPHA:683 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Gliosis, Peripheral demyelination, Cerebral atrophy |
OMIM:252150 |
| Developmental And Epileptic Encephalopathy 102 |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... |
OMIM:619881 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Bilateral tonic-clonic seizure, Dysmetria, EEG abnormality, Dysdiadochokinesis, Myoclonus... |
ORPHA:313772 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Optic nerve hypoplasia, Inability to walk, Seizure, Irritability, S... |
OMIM:617864 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... |
OMIM:614418 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
CNS hypomyelination |
OMIM:616239 |
| Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration |
ORPHA:88628 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Ataxia, Bilateral tonic-clonic seizure, Dysmetria, Dysdiadochokinesis, Myoclonus,... |
OMIM:614487 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
| Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, CNS demyelination, Peripheral demyelination, Cerebral atrophy |
OMIM:272200 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, CNS hypomyelination |
OMIM:614922 |
| Hemimegalencephaly |
|
Optic atrophy, Gliosis, Abnormal neuron morphology |
ORPHA:99802 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
| Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Polyc... |
OMIM:600501 |
| Alpers-Huttenlocher Syndrome |
|
Bilateral tonic-clonic seizure, Ataxia, Focal-onset seizure, Choreoathetosis, Myoclonus |
ORPHA:726 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Cerebral hypomyelination, Delayed myelination |
OMIM:616683 |
| Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
| Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
CNS hypomyelination |
OMIM:619423 |
| Postencephalitic Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Sensory axonal neuropathy, Facial palsy, ... |
OMIM:256850 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, CNS hypomyelination |
ORPHA:300605 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Ataxia, Sensorineural hearing impairment, Ge... |
OMIM:618170 |
| Sandhoff Disease, Infantile Form |
|
CNS hypomyelination |
ORPHA:309155 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy |
OMIM:614116 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Gait disturbance, Impaired social interactions, Abnormality of... |
ORPHA:544254 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Gliosis, Neurodegeneration, Neuronal loss in... |
OMIM:256600 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Short stepped... |
OMIM:168600 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral hypomyelination |
ORPHA:438114 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Facial diplegia, Onion bulb forma... |
OMIM:218000 |
| Combined Saposin Deficiency |
|
CNS demyelination |
OMIM:611721 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Cerebral cortical atrophy, Degeneration o... |
OMIM:604360 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:88618 |
| Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
CNS hypomyelination |
OMIM:618527 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:619580 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis... |
ORPHA:275872 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Ataxia, Abnormal auditory evoked potentials, Abnormality of somatosensor... |
ORPHA:99027 |
| Peho Syndrome |
|
Cerebellar atrophy, Neuronal loss in central nervous system, Optic atrophy, Peripheral dysmyelina... |
OMIM:260565 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination |
OMIM:612949 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Bradykinesia, Blepharosp... |
ORPHA:240071 |
| Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Depression |
ORPHA:178509 |
| Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
| Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy |
OMIM:608703 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait, ... |
OMIM:616505 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem... |
ORPHA:1215 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Decreased number of large peripheral myelinated nerve fibers, Demyelinating peripheral neuropathy... |
ORPHA:99948 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
| Parkinson Disease 21 |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism |
OMIM:616361 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Cerebral atrophy, Peripheral hypomyelinat... |
OMIM:609136 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Pontocerebellar atrophy, Atrophy/Dege... |
ORPHA:171629 |
| Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Gait disturbance, Shuffling gai... |
OMIM:168601 |
| O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Increased circulating antibody level, Fasciculations |
ORPHA:99965 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination |
OMIM:612951 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
| Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination |
ORPHA:206448 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
| De Sanctis-Cacchione Syndrome |
|
Axonal degeneration, Optic atrophy, Cerebral atrophy, Leukodystrophy, Global brain atrophy |
OMIM:278800 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Abnormal astrocyte morphology, Diffuse demyelination of the cerebral white matter, Gliosis, Cereb... |
ORPHA:168486 |
| Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
| Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Spasticity, Paroxysmal bursts of laughter |
OMIM:618718 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
CNS demyelination, Leukodystrophy |
OMIM:264470 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination |
OMIM:250100 |
| Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tremor, Inability to walk... |
ORPHA:845 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve conduction velocity,... |
ORPHA:101085 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
| Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
| Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
| Gaba-Transaminase Deficiency |
|
Leukodystrophy |
OMIM:613163 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
OMIM:300894 |
| Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Optic neuropathy, Axonal degeneration, Optic atrophy, Hype... |
ORPHA:909 |
| Hyperekplexia 3 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonus |
OMIM:614618 |
| Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Tetrapa... |
ORPHA:363400 |
| Stiff-Person Syndrome |
|
Exaggerated startle response, Depression, Opisthotonus, Myoclonic spasms, Anemia |
OMIM:184850 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:618688 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
| Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Gliosis, Cerebral cortical atrophy |
OMIM:618369 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clonus |
OMIM:609541 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
CNS hypomyelination |
OMIM:617193 |
| Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Ataxia, Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression |
OMIM:604121 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic s... |
ORPHA:98795 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:614251 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination |
ORPHA:280219 |
| Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Decreased nerve conduction velocity, Optic atroph... |
ORPHA:206436 |
| Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Astrocytosis |
ORPHA:204 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
| Sandhoff Disease |
|
CNS hypomyelination |
OMIM:268800 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
| Childhood Absence Epilepsy |
|
Bilateral tonic-clonic seizure, Typical absence seizure, Depression, Limb myoclonus, Febrile seiz... |
ORPHA:64280 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Delayed CNS myelination |
OMIM:618832 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Sneddon Syndrome |
|
Tremor, Decreased circulating total IgM, Hemiplegia, Impaired distal tactile sensation |
OMIM:182410 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Leukodystrophy, CNS hypomyelination |
OMIM:619708 |
| Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
| Hyperekplexia 1 |
|
Seizure, Exaggerated startle response, Myoclonus, Nocturnal seizures |
OMIM:149400 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Impaired T cell function, Tremor, Irritability, Emotional lability, Lethargy |
OMIM:201100 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased number of large peripheral myelinated nerve fibers, Chronic axonal neuropathy |
OMIM:162400 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
CNS hypomyelination |
OMIM:618922 |
| Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Impaired vibratory sen... |
ORPHA:2388 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Narcolepsy, Sensorineural hearing impairment, Optic atrophy, Depression, ... |
ORPHA:314404 |
| Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Depression, Limb ataxia, Distal sensory impairment,... |
OMIM:617675 |
| Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Opti... |
OMIM:617281 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination |
ORPHA:168563 |
| Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Anisopoikilocytosis, Myoclonic seizure... |
OMIM:619835 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
CNS demyelination |
OMIM:618237 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy |
OMIM:618242 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebral hypomyelination, Delayed CNS myelination, CNS hypomyelination |
OMIM:618367 |
| Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Sensorineural hearing impairment, Seizure, Abnormal auditory evoked potentials |
ORPHA:529799 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
| Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
| Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Seizure, Gait disturbance, Ab... |
ORPHA:90321 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Neuronal loss in central nervous system, Optic atrophy, Gliosis |
OMIM:614498 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy |
OMIM:618006 |
| Frontal Encephalocele |
|
Leukodystrophy |
ORPHA:1931 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Hypermyelinat... |
OMIM:270550 |
| Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials |
OMIM:617523 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Myoclonic seizure, Limb dystonia, Tonic seizure, Focal hemiclonic seizure, EEG with burst suppres... |
OMIM:616973 |
| Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
| Niemann-Pick Disease Type C |
|
Axial dystonia, Generalized-onset seizure, Ataxia, Dystonia, Bone-marrow foam cells, Tremor, Sple... |
ORPHA:646 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Cerebral atr... |
ORPHA:79282 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Generalized dystonia, Bilateral tonic-clonic seizure, Focal-onset seizure, Optic atrophy, Depress... |
ORPHA:329308 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cerebral hypomyelination |
ORPHA:247262 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Delayed peripheral myelination |
ORPHA:464282 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:79351 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
| Fucosidosis |
|
CNS hypomyelination |
OMIM:230000 |
| Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Depression, Bradykinesia, Gait imbalance, Impaired social interactions, Dystoni... |
ORPHA:2828 |
| Leigh Syndrome |
|
CNS demyelination, Optic atrophy, Gliosis |
OMIM:256000 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral hypomyelination |
ORPHA:457351 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:614501 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:617964 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
| Early Infantile Epileptic Encephalopathy |
|
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Tremor, Focal-onset... |
ORPHA:1934 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... |
ORPHA:254930 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination |
OMIM:618193 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy |
OMIM:614932 |
| Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:300523 |
| Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Involuntary movements, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
| Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Decreased circulating IgG2 level, Slurred speech, Choreoatheto... |
OMIM:208900 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
| East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Peripheral hypomyelination |
ORPHA:199343 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
CNS hypomyelination |
OMIM:615356 |
| Pyruvate Carboxylase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:3008 |
| Hyperekplexia 2 |
|
Exaggerated startle response, Myoclonus |
OMIM:614619 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral hypomyelination |
ORPHA:496641 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Atrophy/Degeneration aff... |
OMIM:614946 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Brain atrophy, Basal ganglia gliosis, Neuronal los... |
OMIM:604377 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Abnormal peripheral myelination, Atrophy of the spinal cord, Brain atrophy, A... |
ORPHA:466768 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:620269 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Broad-based gait, Exaggerated startle response, Ataxia, External ear malformation, Seizure, Dystonia |
ORPHA:438216 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... |
ORPHA:298 |
| Arthrogryposis, Distal, Type 2A |
|
Seizure, Abnormal auditory evoked potentials, Hearing impairment |
OMIM:193700 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
| Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Hepatosplen... |
ORPHA:79330 |
| Myoclonic Epilepsy Of Lafora |
|
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized non-... |
OMIM:254780 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:618225 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Sudanophilic leukodystrophy, Leukodystrophy |
OMIM:260600 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:201300 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy |
OMIM:619851 |
| Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Optic nerve hypoplasia, Tremor, Clonic seizure, EEG with burst supp... |
OMIM:615574 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Impaired T cell function, Tremor, Spastic diplegia, Tetraparesis, Decreased lymphocyte pr... |
OMIM:613179 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed myelination, Neurofibroma, Neurodegeneration, Leukodystrophy, Peripheral demyelination |
OMIM:619475 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
CNS demyelination, Delayed CNS myelination |
OMIM:619653 |
| Schilder Disease |
|
CNS demyelination |
ORPHA:59298 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Cerebral cortical atrophy, Optic atrophy, Gliosis |
OMIM:277470 |
| Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response, Hearing impairment, Myoclonic seizure |
OMIM:620327 |
| Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:619224 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Gliosis |
OMIM:608033 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Ataxia, Depression |
ORPHA:79095 |
| Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy |
OMIM:612952 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:616034 |
| Tay-Sachs Disease |
|
Seizure, Exaggerated startle response |
OMIM:272800 |
| Waardenburg Syndrome, Type 4A |
|
Leukodystrophy |
OMIM:277580 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Leukodystrophy |
OMIM:612233 |
| Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination |
OMIM:619641 |
| Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
| Aicardi-Goutieres Syndrome 4 |
|
Leukodystrophy |
OMIM:610333 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
CNS demyelination, Gliosis, Peripheral demyelination |
OMIM:220111 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Demyelinating peripheral neuropathy, Segmental peripheral demyelination/remyelination |
ORPHA:255210 |
| Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
CNS hypomyelination |
ORPHA:268261 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Clonus, Hair-pulling, Irritability, Hypertonia, Myoclonic spasms |
ORPHA:447997 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Onion bulb formation, Optic neuropathy |
ORPHA:320375 |
| Cockayne Syndrome A |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:216400 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Leukodystrophy |
OMIM:618226 |
| Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo... |
ORPHA:171929 |
| Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Leukodystrophy |
OMIM:615330 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Dpagt1-Cdg |
|
CNS hypomyelination |
ORPHA:86309 |
| Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia |
OMIM:146500 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
| Cockayne Syndrome B |
|
Ataxia, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conductio... |
OMIM:133540 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:607485 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
CNS demyelination, Delayed myelination |
OMIM:214150 |
| Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Peripheral hypomyelination |
OMIM:618733 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Leukodystrophy |
ORPHA:401866 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Peripheral hypomyelination, Chronic axonal neuropathy |
OMIM:612780 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Sensorineural hearing impairment... |
ORPHA:521426 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
| Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hepatosplenomegaly, Seizure, Low-set ears, Dystonia, Macrotia, Hear... |
ORPHA:79255 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Optic atrophy, Facial... |
ORPHA:99949 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:477817 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Leukodystrophy |
OMIM:616140 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Ataxia |
OMIM:616393 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
| Wiedemann-Rautenstrauch Syndrome |
|
Leukodystrophy, CNS hypomyelination |
ORPHA:3455 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Babinski sign, Abnormal pyramidal sign, Impaired distal vibration sensation, Dysmetria, Spastic d... |
OMIM:616680 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Generalized-onset seizure, Posteriorly rotated ears, Optic atrophy,... |
OMIM:617527 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Hypertonia, Clonus |
OMIM:617301 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Leukodystrophy |
OMIM:619051 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Leukodystrophy |
OMIM:617762 |
| Canavan Disease |
|
CNS demyelination |
OMIM:271900 |
| Orofaciodigital Syndrome Xiv |
|
CNS hypomyelination |
OMIM:615948 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Leukodystrophy |
OMIM:614299 |
| Marchiafava-Bignami Disease |
|
CNS demyelination |
ORPHA:221074 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cerebral hypomyelination |
ORPHA:513456 |
| Mend Syndrome |
|
Seizure, Abnormal auditory evoked potentials, Low-set ears |
ORPHA:401973 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Seizure, Exaggerated startle response, Optic atrophy |
OMIM:253800 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Rere-Related Neurodevelopmental Syndrome |
|
CNS demyelination |
ORPHA:494344 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
| Bohring-Opitz Syndrome |
|
Delayed peripheral myelination |
OMIM:605039 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Leukodystrophy |
OMIM:614462 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination |
ORPHA:440713 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
CNS hypomyelination |
OMIM:619534 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Myelin outfoldings, Optic atrophy |
ORPHA:99956 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Leukodystrophy |
ORPHA:431361 |
| Alg8-Cdg |
|
Leukodystrophy |
ORPHA:79325 |
| African Trypanosomiasis |
|
Papilledema, Akinesia, Tremor, Splenomegaly, Narcolepsy, Hepatosplenomegaly, Choreoathetosis, Sei... |
ORPHA:3385 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Broad-based gait, Hair-pulling, Dystonia, Emotional lability |
OMIM:620330 |
| Peroxisome Biogenesis Disorder 6B |
|
Leukodystrophy |
OMIM:614871 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination |
OMIM:614886 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:256810 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Narcolepsy, Sensorineural hearing impairment, Depression, Seizure, Abnormal autonomic nervous sys... |
ORPHA:293987 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:615471 |
| Immunodeficiency 23 |
|
Abnormal CNS myelination |
OMIM:615816 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Leukodystrophy |
ORPHA:370997 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Epileptic spasm, Broad-based gait, Exaggerated startle response, Inability to ... |
ORPHA:438213 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination |
OMIM:610651 |
| Hurler Syndrome |
|
Abnormal CNS myelination |
OMIM:607014 |
| Aicardi-Goutieres Syndrome 1 |
|
CNS demyelination |
OMIM:225750 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
| Supranuclear Palsy, Progressive, 2 |
|
Neuronal loss in central nervous system, Gliosis, Granulovacuolar degeneration |
OMIM:609454 |
| Secondary Syringomyelia |
|
CNS demyelination |
ORPHA:99857 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
CNS demyelination, Diffuse demyelination of the cerebral white matter |
ORPHA:139396 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Leukodystrophy |
ORPHA:309256 |
| Glycogen Storage Disease Ii |
|
Abnormal CNS myelination |
OMIM:232300 |
| Acute Disseminated Encephalomyelitis |
|
CNS demyelination |
ORPHA:83597 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Leukodystrophy |
ORPHA:309263 |
| Leigh Syndrome |
|
Leukodystrophy |
ORPHA:506 |
| Monosomy 22Q13.3 |
|
Hair-pulling, Impaired pain sensation |
ORPHA:48652 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CNS demyelination |
OMIM:603553 |
| Peroxisome Biogenesis Disorder 1B |
|
Leukodystrophy |
OMIM:601539 |
| Monosomy 18Q |
|
Abnormal myelination |
ORPHA:1600 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Leukodystrophy |
ORPHA:79124 |
| Metachromatic Leukodystrophy, Adult Form |
|
Leukodystrophy |
ORPHA:309271 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukodystrophy |
OMIM:612199 |
| Isolated Complex I Deficiency |
|
Leukodystrophy |
ORPHA:2609 |
| Rabson-Mendenhall Syndrome |
|
CNS demyelination |
ORPHA:769 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
CNS demyelination |
OMIM:620024 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Delayed myelination, Abnormal myelination |
ORPHA:404454 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Leukodystrophy |
OMIM:619575 |
| Bickerstaff Brainstem Encephalitis |
|
Acute demyelinating polyneuropathy, CNS demyelination |
ORPHA:79138 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination |
ORPHA:309854 |
| Cockayne Syndrome Type 3 |
|
Demyelinating peripheral neuropathy, Abnormal myelination |
ORPHA:90324 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukodystrophy |
OMIM:252010 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Posteriorly rotated ears, Seizure, Microtia, Low-set ears, Small ea... |
OMIM:619522 |
| Aicardi-Goutières Syndrome |
|
Demyelinating peripheral neuropathy, Leukodystrophy |
ORPHA:51 |
| Acute Transverse Myelitis |
|
CNS demyelination |
ORPHA:139417 |
| Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
