| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
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 |
|
Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene... |
OMIM:214400 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... |
OMIM:601068 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Gliosis, Axonal degeneration, Decreased number of peripheral... |
OMIM:604484 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Difficulty walking, Myocl... |
OMIM:613608 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Segmenta... |
OMIM:607734 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Irritability, Tonic ... |
OMIM:615006 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Depression, Resting tremor, Rigi... |
OMIM:619491 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
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 |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... |
OMIM:615127 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy... |
OMIM:606483 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Myoclonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:619964 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe... |
OMIM:118210 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Depression, Inappropriate behavior, Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Up... |
ORPHA:401901 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, A... |
OMIM:614561 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607677 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Distal sensory impairment, Rigidity, Ataxia |
OMIM:617018 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607731 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axonal degeneration, Periph... |
OMIM:601596 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... |
OMIM:616187 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Axonal regeneration, Peripheral demyelination, Onion bulb formation |
OMIM:615185 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Peripheral demyelination, Decreased number of peripheral myelinated n... |
OMIM:118200 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle ... |
OMIM:616053 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formatio... |
OMIM:180800 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Paroxysmal dystonia, Prolonged somatosensory evoked potentials, Focal hem... |
OMIM:608105 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Abnormal lower motor neuron morphology, Perip... |
OMIM:602433 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Depression, Generalized-onset seizure, Bilateral tonic-clonic seizure wi... |
ORPHA:101046 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
EEG with spike-wave complexes, Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aw... |
OMIM:614417 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Continuous spike and waves during slow sleep, EEG with centrotemporal ... |
ORPHA:725 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Cerebral atrophy, Abnormal upper motor neuron morphology, Peripheral demyelination, Caudate atrop... |
OMIM:221770 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Cavitating leukodystrophy |
OMIM:619061 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination |
OMIM:605253 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax... |
ORPHA:98856 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Basal lamina onion bulb formation, Peripheral demyelination, Decreased number of peripheral myeli... |
OMIM:614895 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, In... |
OMIM:615400 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, EEG with spike-wave ... |
OMIM:614018 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Tremor, Unsteady gait, Frequent falls, Hemiballismus |
ORPHA:494526 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Depression, Chorea, Limb dystonia, Emotional lability, Tremor, Irritability, Rigidity... |
ORPHA:216873 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Reduced social reciprocity, Torticollis, Kinet... |
OMIM:611092 |
| Dystonia 12 |
|
Depression, Bradykinesia, Emotional lability, Tremor, Parkinsonism, Torticollis, Unsteady gait, D... |
OMIM:128235 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Axonal degeneration/regeneration, Axonal degeneration |
OMIM:614436 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb... |
OMIM:605588 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Frequent falls, Hemiballismus |
OMIM:616921 |
| Null Syndrome |
|
Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy |
ORPHA:280234 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Depression, Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
| Developmental And Epileptic Encephalopathy 31A |
|
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Tonic seizure, Hypsarr... |
OMIM:616346 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:311070 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Limb dystonia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor func... |
OMIM:605407 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with spike-wave complexes, Gait ataxia, EEG with polyspike wave complexes, Tremor, Myoclonus,... |
OMIM:618587 |
| Leukodystrophy, Hypomyelinating, 11 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:616494 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration/regeneration, Decreased... |
OMIM:607706 |
| Developmental And Epileptic Encephalopathy 67 |
|
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Gait disturbanc... |
OMIM:618141 |
| Lennox-Gastaut Syndrome |
|
Falls, EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Irritability, Generalized... |
ORPHA:2382 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Peripheral de... |
OMIM:617672 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Seizure, Abnormality of so... |
ORPHA:320401 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Axonal loss, Peripheral demyelination |
OMIM:616684 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Axonal loss, Onion bulb formation, Peripheral hypomyelination |
OMIM:611228 |
| Landau-Kleffner Syndrome |
|
EEG with frontal focal spikes, EEG with generalized epileptiform discharges, Continuous spike and... |
ORPHA:98818 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Peripheral demyelination, Myelin tomacula, Decreased number of periph... |
OMIM:145900 |
| Dystonia 11, Myoclonic |
|
Depression, Myoclonus, Tremor, Torticollis, Writer's cramp |
OMIM:159900 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Bradykinesia, Incoordination, Postural tremor, Gait ataxia, Cogwheel ... |
OMIM:128230 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... |
OMIM:607682 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Tremor by anatomical s... |
ORPHA:101110 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Axonal regeneration, Onion bulb formation |
OMIM:608323 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower limbs, Limb ata... |
ORPHA:251282 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Perioral Myoclonia With Absences |
|
Falls, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Focal seizure with... |
ORPHA:139426 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neuropathy, Peripheral ... |
ORPHA:101097 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Hypertrophic nerve changes, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:601098 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Falls, Action myoclonus, Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Gait disturba... |
OMIM:616230 |
| Developmental And Epileptic Encephalopathy 104 |
|
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilate... |
OMIM:619970 |
| Spinocerebellar Ataxia 12 |
|
Depression, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokines... |
OMIM:604326 |
| Developmental And Epileptic Encephalopathy 53 |
|
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsar... |
OMIM:617389 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Somatic sensory dysfunction, Limb dysmetria, Myoclonus, Tremor, Cogwheel rigidity, Gait di... |
ORPHA:363710 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Depression, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia |
OMIM:162350 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... |
OMIM:608340 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
CNS hypomyelination |
OMIM:620425 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, EEG with gen... |
OMIM:254770 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Depression, Bradykinesia, Postural tremor, Myoclonus, Tremor, Rigidity, Babinski sign, Gait distu... |
ORPHA:314632 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... |
OMIM:609311 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Gait disturbance, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Depression, Resting tremor, Limb dystonia, Gait ataxia, Emotional lability, Craniofacial dystonia... |
ORPHA:71517 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Axonal loss, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Babinski sign, Scis... |
OMIM:260300 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Depression, Bradykinesia, Chorea, Limb dysmetria, Tremor, Rigidity, Parkinsonism, Gait disturbanc... |
OMIM:213600 |
| Developmental And Epileptic Encephalopathy 59 |
|
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilater... |
OMIM:617904 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... |
OMIM:254800 |
| Spinocerebellar Ataxia Type 12 |
|
Bradykinesia, Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Gai... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 28 |
|
Spasticity, Depression, Head tremor, Limb ataxia, Limb dystonia, Gait ataxia, Rigidity, Dystonia,... |
ORPHA:101109 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Depression, Seizure, Myoclonus, Gait ataxia, Tremor, Emotional lability, Bilateral tonic-clonic s... |
OMIM:615362 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Peripheral demyelination, Axonal degeneration, Peripheral hypomyelination, Peri... |
OMIM:604168 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Peripheral demyelination |
ORPHA:2932 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, EEG abnormality, Bilateral tonic-clonic seizure, Irritability |
OMIM:610003 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Gait disturbance, Tremor |
OMIM:611808 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Bradykinesia, Progressive ext... |
ORPHA:454887 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, ... |
OMIM:302800 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
CNS hypomyelination |
OMIM:619688 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Cereb... |
ORPHA:497764 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:613855 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Depression, Generalized non-motor (absence) ... |
OMIM:618873 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic... |
OMIM:617087 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve ... |
OMIM:609260 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Depression, Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures |
|
Status epilepticus, Emotional lability, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:617171 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Peripheral hyp... |
OMIM:605285 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Peripheral axonal neuropathy, Axonal degeneration, Decreased number of peripheral myelinated nerv... |
OMIM:615490 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Depression, Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia |
OMIM:619191 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Hypsarrhythmia, Bilateral t... |
OMIM:616409 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Neuronal loss in central nervous system |
ORPHA:71211 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizur... |
OMIM:616056 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Hearing impairment, Myoclonus, Irritability, Bilateral tonic-clonic seizure, Multi... |
OMIM:609056 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:620482 |
| Dravet Syndrome |
|
Ataxia, Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seiz... |
OMIM:607208 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Bradykinesia, Tremor, EEG abnormality, Bilateral tonic-clonic seizure,... |
OMIM:617836 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Depression, Myoclonus, Status epilepticus without prominent motor symptoms, Bilateral tonic-cloni... |
OMIM:204300 |
| Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Dyst... |
OMIM:618924 |
| Spinocerebellar Ataxia 48 |
|
Depression, Chorea, Gait ataxia, Dysmetria, Irritability, Tremor, Babinski sign, Parkinsonism, At... |
OMIM:618093 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Global brain atrophy, CNS hypomyelination, Sudanophilic leukodystrophy, Cerebellar... |
OMIM:312080 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Bilateral ... |
OMIM:619157 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia, Unsteady gait |
OMIM:615768 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure... |
ORPHA:330050 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Continuous spike and waves during slow sleep, EEG with centrotemporal focal spike waves, Focal im... |
OMIM:245570 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Peripheral demyelination, Onion bulb formation |
OMIM:618279 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... |
OMIM:607876 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Spinocerebellar Ataxia 23 |
|
Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Bab... |
OMIM:610245 |
| Developmental And Epileptic Encephalopathy 12 |
|
Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613722 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip... |
OMIM:604563 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy |
OMIM:617560 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality, Focal t... |
OMIM:617106 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Familial Focal Epilepsy With Variable Foci |
|
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Simple febrile seizure, Hypsar... |
ORPHA:98820 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait |
OMIM:608636 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Leukodystrophy |
OMIM:616370 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, EEG abnor... |
OMIM:617391 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Axonal loss, Demyelinating motor neuropathy, Diffuse peripheral demyeli... |
ORPHA:206594 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, Aton... |
OMIM:617113 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Irregular myelin loops, Facial palsy, Myelin outfoldings |
OMIM:601382 |
| Developmental And Epileptic Encephalopathy 27 |
|
Myoclonic seizure, Seizure, Epileptic spasm, Infantile spasms, Myoclonus, Hypsarrhythmia, Bilater... |
OMIM:616139 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Unsteady gait, Truncal ataxia, Nonprogressive cerebellar ataxia, Spast... |
ORPHA:314978 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Inability to walk, Inappropriate laughter, Emotional lability, Tremor, Waddling gait |
OMIM:616269 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Irritability, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, CNS demyelination, Abnormal oligodendroglia morphology |
ORPHA:217260 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration |
OMIM:616155 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10 |
|
Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral myelinated ner... |
OMIM:620542 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Parkinson Disease 22, Autosomal Dominant |
|
Depression, Resting tremor, Rigidity, Gait disturbance, Parkinsonism with favorable response to d... |
OMIM:616710 |
| Krabbe Disease |
|
Optic atrophy, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CNS demyeli... |
OMIM:245200 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers |
OMIM:618184 |
| Huntington Disease-Like 2 |
|
Depression, Bradykinesia, Chorea, Action tremor, Irritability, Rigidity, Dystonia |
OMIM:606438 |
| Dystonia 16 |
|
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Dysmetria, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Urocanase Deficiency |
|
Broad-based gait, Gait ataxia, Action tremor, Dysmetria, Ataxia, Truncal ataxia |
OMIM:276880 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady gait, Intention tremor |
OMIM:302500 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:614558 |
| Cortical Malformations, Occipital |
|
Focal impaired awareness automatism seizure, EEG abnormality, Bilateral tonic-clonic seizure |
OMIM:614115 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy |
ORPHA:99953 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Corpus callosum atrophy, Gliosis, Leukodystrophy |
OMIM:169500 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive c... |
ORPHA:98763 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Gait disturbance, Delayed early-chil... |
OMIM:618090 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral hypomyelination, CNS hypomyelination |
ORPHA:369939 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Tip-toe gait, Laryngeal dystonia, Retrocollis, Myoclonus, Tremor, Craniofacial dyston... |
OMIM:617284 |
| Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination |
OMIM:618559 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, EEG with spike-wave complexes (>3.5 Hz), Generalized myoclonic se... |
OMIM:600669 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Depression, Chorea, Action tremor, Reduced social reciprocity, Tremor, Hyperkinetic movements, Pa... |
OMIM:619738 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Loss of ambulation, Babinski sign, Scissor gait, ... |
ORPHA:521406 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal degeneration, Cer... |
OMIM:208920 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Difficulty walking, Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Developmental Delay With Or Without Epilepsy |
|
EEG with frontal focal spikes, Spastic gait, Myoclonic seizure, Atonic seizure, Generalized non-m... |
OMIM:620540 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Falls, Resting tremor, Gait ataxia, Distal sens... |
OMIM:617225 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Myoclonic Epilepsy Of Infancy |
|
EEG with irregular generalized spike and wave complexes, Generalized non-motor (absence) seizure,... |
ORPHA:86909 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Developmental And Epileptic Encephalopathy 14 |
|
Cerebral cortical atrophy, Delayed CNS myelination, Gliosis, Neuronal loss in central nervous system |
OMIM:614959 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy |
ORPHA:527497 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation |
OMIM:615035 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Progressive sensorineural hearing impairment, Seizure, Gait imbala... |
OMIM:301020 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Cerebellar atrophy, Leukodystrophy, Cerebellar vermis atrophy, Peripheral demyelin... |
OMIM:614877 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Short stepped shuffling gait, Shuffling gait, Falls, Resting tremor, Rigidity, Parkinsonism, Brad... |
ORPHA:306692 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tongue fasciculations, Fasciculations, Inability to walk, Tremor, Gait disturbance, Impaired dist... |
ORPHA:276435 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Limb myoclonus, Focal myoclonic seizure, Focal EEG discharges with secondary gener... |
ORPHA:263516 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Spinocerebellar Ataxia Type 27 |
|
Depression, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, Gait dis... |
ORPHA:98764 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability to walk, Gai... |
OMIM:617810 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased number of peripheral myeli... |
OMIM:600882 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Seizure, Febrile seizure (within the ... |
ORPHA:206443 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Tremor, Hereditary Essential, 6 |
|
Leukodystrophy |
OMIM:618866 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral hypomyelination |
OMIM:300475 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:2386 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Shuffling gait, Pill-rolling tremor, Resting tremor, Bradykinesia, Postural tremor, Gait ataxia, ... |
OMIM:600116 |
| Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure |
OMIM:104290 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Depression, Bradykinesia, Difficulty walking, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Parkinsonism With Polyneuropathy |
|
Depression, Resting tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medica... |
OMIM:619279 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Cerebral atrophy, Decreased number of periphera... |
OMIM:607250 |
| Dystonia 22, Juvenile-Onset |
|
Dysdiadochokinesis, Generalized dystonia, Laryngeal dystonia, Dysmetria, Torticollis, Oromandibul... |
OMIM:620453 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n... |
ORPHA:478029 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Depression, Falls, Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopami... |
ORPHA:240085 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed CNS myelina... |
OMIM:616811 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607831 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration |
OMIM:618138 |
| Benign Familial Neonatal-Infantile Seizures |
|
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... |
ORPHA:140927 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Spinocerebellar Ataxia 42 |
|
Depression, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait,... |
OMIM:616795 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... |
OMIM:619000 |
| 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 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Bradykinesia, Chorea, Emotional lability, Tremor, ... |
OMIM:606159 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination |
OMIM:619125 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... |
OMIM:620537 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Action tremor, Rigidity, Impaired tandem gait, Parkinsonism, Gait disturbance,... |
OMIM:300423 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Peripheral hypomyelination |
OMIM:616287 |
| Atypical Juvenile Parkinsonism |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Resting tremor, Bradykinesia... |
ORPHA:391411 |
| Developmental And Epileptic Encephalopathy 5 |
|
CNS hypomyelination |
OMIM:613477 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:611364 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Axonal degeneration |
OMIM:618811 |
| Leukodystrophy, Hypomyelinating, 5 |
|
CNS hypomyelination, Onion bulb formation, Leukodystrophy |
OMIM:610532 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Inappropriate behavior, Bradykinesia, Extrapyramidal muscular rigidity, Spe... |
ORPHA:99750 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Difficulty walking, Limb dystonia, Tr... |
ORPHA:99657 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Bradykinesia, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hype... |
OMIM:613135 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Ataxia, Dystonia, Spastic tetraplegia |
ORPHA:599373 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Gliosis |
OMIM:618328 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101075 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis |
OMIM:612621 |
| Developmental And Epileptic Encephalopathy 91 |
|
Myoclonic seizure, Seizure, Epileptic spasm, Atypical absence seizure, Tonic seizure, Hypsarrhyth... |
OMIM:617711 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604320 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Conductive hearing impairment, Seizure, Inability to walk, Epileptic spasm, My... |
OMIM:618497 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... |
OMIM:125250 |
| Developmental And Epileptic Encephalopathy 103 |
|
Continuous spike and waves during slow sleep, Myoclonic seizure, Atonic seizure, Generalized non-... |
OMIM:619913 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Cerebral hypomyelination, CNS demyelination |
OMIM:603896 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Difficulty walking, Postural tremor, Limb ataxia,... |
ORPHA:284324 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Optic atrophy, Inability to walk, Decreased nerve conduction velocity, Abnormal peripheral action... |
ORPHA:457205 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Gait disturbance, Abnormal pyramidal sign, Oculomoto... |
OMIM:617145 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
CNS hypomyelination |
OMIM:615281 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Seizure, Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, ... |
OMIM:617519 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Thrombocytopenia, Anemia, Dy... |
OMIM:619302 |
| Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... |
ORPHA:101071 |
| Seizures, Benign Familial Infantile, 3 |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure ... |
OMIM:607745 |
| Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Tremor |
OMIM:619561 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Dysmetria, Tremor, Distal sensory impairment, Steppage gait, Ataxia |
OMIM:618387 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Shuffling gait, Prelingual sensorineural hearing impairment, Generalized dystonia,... |
ORPHA:52368 |
| Developmental And Epileptic Encephalopathy 47 |
|
Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait disturbance, Hypsarrhyth... |
OMIM:617166 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
CNS hypomyelination |
OMIM:615760 |
| Leukodystrophy, Hypomyelinating, 15 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:617951 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Depression, Spastic paraparesis, Resting tremor, Bradykinesia, Incoordination, Limb ataxia, Gait ... |
OMIM:615157 |
| Autosomal Spastic Paraplegia Type 58 |
|
Erratic myoclonus, Spasticity, Tip-toe gait, Frequent falls, Fasciculations, Chorea, Gait ataxia,... |
ORPHA:397946 |
| Developmental And Epileptic Encephalopathy 41 |
|
Myoclonic seizure, Inability to walk, Epileptic spasm, Irritability, Status epilepticus without p... |
OMIM:617105 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Difficulty walking, Inability to walk, Myoclonus, Tremor, Abnormal lower motor ne... |
ORPHA:2590 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,... |
OMIM:105550 |
| Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... |
OMIM:616648 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Irritability, Ataxia, Dystonia, Choreoathetosis |
OMIM:612126 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Impaired pain sensation, Tremor, Ataxia |
ORPHA:101078 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Spastic paraparesis, Somatic sensory dysfunction, Difficulty walking, Inability to walk, Tremor, ... |
ORPHA:101077 |
| Phenylketonuria |
|
Depression, Lower limb spasticity, Tremor, Ataxia |
ORPHA:716 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Tremor, Dysmetria, Abnormality of extrapyramidal motor function, Babinski sig... |
OMIM:164500 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
CNS hypomyelination, Leukodystrophy |
OMIM:607694 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Shuffling gait, Resting tremor, Hand tremor, Torsion dystonia, Difficulty walking,... |
ORPHA:53351 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Focal impaired awareness seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure... |
ORPHA:382 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Bradykinesia, Tremor, Irritability, Rigidity, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, ... |
OMIM:261640 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Tremor, Dysmetria, Ataxia, Unsteady gait |
OMIM:213200 |
| Huppke-Brendel Syndrome |
|
CNS hypomyelination |
OMIM:614482 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:620023 |
| Hsd10 Disease |
|
Spastic paraparesis, Myoclonus, Tremor, Rigidity, Gait disturbance, Ataxia, Choreoathetosis, Abno... |
ORPHA:391417 |
| Trigeminal Neuralgia |
|
Peripheral demyelination, CNS demyelination, Cranial nerve compression |
ORPHA:221091 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy |
ORPHA:101082 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:621 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Cerebral hypomyelination, Leukodystrophy |
OMIM:612438 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Inability to walk, Limb fasciculations, Tremor, Distal sensory impai... |
ORPHA:90117 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Ataxia, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower limb spastici... |
OMIM:618598 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Difficulty walking, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy |
ORPHA:101111 |
| Developmental And Epileptic Encephalopathy 52 |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, Focal hemicl... |
OMIM:617350 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, Bilatera... |
ORPHA:352582 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Seizure, Bradykinesia, Postural tremor, Akinesia, Freezing of gait, Bilateral ton... |
OMIM:619911 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Paresthesia, Gait ataxia, Limb ataxia, Distal sensory impair... |
OMIM:616719 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Tremor, Dysmetria, Loss of ambulation, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Abnormal amplitude of flash visual evoked potentials, Ataxia, EEG with generalized slow activity,... |
ORPHA:168491 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Brain atrophy, Onion bulb formation, Myelin outfoldings |
OMIM:615284 |
| Huntington Disease |
|
Cerebellar atrophy, Gliosis, Neuronal loss in central nervous system |
OMIM:143100 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Demyelinating motor neuropathy, Cerebral hypomyelination, Leukodystrophy |
OMIM:608804 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormal myelination |
ORPHA:431329 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Ataxia, Dystonia, Dysdia... |
OMIM:618049 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Focal impaired awareness seizure, Focal-onset seizure, Simple febrile seizure, Bilateral tonic-cl... |
OMIM:617935 |
| Urocanic Aciduria |
|
Broad-based gait, Gait ataxia, Action tremor, Ataxia, Truncal ataxia |
ORPHA:210128 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Myoclonic seizure, Focal impaired awareness seizure, Inability to walk, Epileptic spasm, Focal he... |
ORPHA:293181 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Leukodystrophy |
OMIM:619196 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Impaired pain sensation, Limb myoclonus, ... |
ORPHA:3095 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Developmental And Epileptic Encephalopathy 93 |
|
CNS hypomyelination |
OMIM:618012 |
| Alg2-Cdg |
|
Cerebral hypomyelination |
ORPHA:79326 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Ddost-Cdg |
|
CNS hypomyelination |
ORPHA:300536 |
| Tangier Disease |
|
Peripheral axonal neuropathy, Peripheral demyelination, Facial diplegia |
OMIM:205400 |
| Giant Axonal Neuropathy |
|
CNS hypomyelination |
ORPHA:643 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Gait ataxia, Intention tremor, Dysmetria, Tremor, Ataxia, Truncal ataxia, Dysdi... |
OMIM:610185 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebral hypomyelination, CNS hypomyelination, Leukodystrophy |
OMIM:614381 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
CNS hypomyelination |
OMIM:619908 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Global brain atrophy, Corpus callosum atrophy, CNS demyelination, Gliosis, Neuronal loss in centr... |
OMIM:221820 |
| Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
| Leukodystrophy, Hypomyelinating, 10 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:616420 |
| Folinic Acid-Responsive Seizures |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:79097 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Segmental peripheral demyelination/remyelination, Onion bulb formation |
OMIM:601455 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Dystonia 16 |
|
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... |
OMIM:612067 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Head tremor, Postural tremor, Action tremor, Myoclonus, Apraxia, Ataxia |
OMIM:620158 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Bradykinesia, Akinesia, Myoclonus, Tremor, Distal sensory impairm... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 109 |
|
Crouch gait, Myoclonic seizure, Typical absence seizure, Gait ataxia, Myoclonus, Focal hemiclonic... |
OMIM:620145 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy |
OMIM:616859 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Depression, Tremor, Hemiparesis, Ataxia, Intention tremor |
OMIM:614307 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Resting tremor, Tremor, Irritab... |
ORPHA:3077 |
| Spinocerebellar Ataxia With Epilepsy |
|
Depression, Gait ataxia, Myoclonus, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressive ... |
ORPHA:254881 |
| Developmental And Epileptic Encephalopathy 99 |
|
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... |
OMIM:619606 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Emotional lability, Tremor, Gait disturbance, Abnormal pyramidal sign, Ataxia, Dystonia |
ORPHA:542310 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Hyperekplexia-Epilepsy Syndrome |
|
Generalized tonic seizure, EEG with temporal focal spikes, Focal impaired awareness seizure, Exag... |
ORPHA:163985 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
CNS hypomyelination, Leukodystrophy |
ORPHA:447896 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Facial palsy, Onion bulb formation |
OMIM:607684 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Abnormal myelination |
ORPHA:401820 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Tip-toe gait, Generalized dystonia, Bradykinesia, Inability to walk, Limb dystonia, T... |
OMIM:617013 |
| Gerstmann-Straussler Disease |
|
Spasticity, Depression, Limb ataxia, Gait ataxia, Emotional lability, Tremor, Rigidity, Myoclonus... |
OMIM:137440 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Bilateral tonic-clonic seizure, Unsteady gait, Dystonia |
OMIM:203740 |
| Lissencephaly 8 |
|
Cerebral hypomyelination |
OMIM:617255 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619286 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
| Developmental And Epileptic Encephalopathy 75 |
|
CNS hypomyelination |
OMIM:618437 |
| Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination |
OMIM:612164 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Tremor, Dysmetria, Clumsiness, Unsteady gait, Myoclonic spasms, At... |
ORPHA:79263 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior, Chorea, Progressive spastic quadriplegia,... |
ORPHA:309246 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ataxia |
ORPHA:139485 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Irritability, Ataxia, ... |
OMIM:616881 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response |
OMIM:617028 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inability to walk, Gait ataxia, Tremor, Dysmetria, Abnormal pyramidal sign, Ataxia, Dysdiadochoki... |
OMIM:614831 |
| Retinal Dystrophy With Leukodystrophy |
|
CNS hypomyelination |
OMIM:618863 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Irritability, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Chor... |
OMIM:233910 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Kohlschutter-Tonz Syndrome |
|
Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, Focal-onset s... |
OMIM:226750 |
| Fragile X Tremor/Ataxia Syndrome |
|
Depression, Poor fine motor coordination, Resting tremor, Postural tremor, Gait ataxia, Action tr... |
OMIM:300623 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Inability to walk, Chorea, Gait ataxia, Action tremor, Cogwheel... |
OMIM:607483 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination |
OMIM:610015 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Bradykinesia, Inability to walk, Gait ataxia, Myoclonus, Tremor, Rigid... |
OMIM:618877 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia |
ORPHA:99014 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Microcephaly-Capillary Malformation Syndrome |
|
CNS hypomyelination, Delayed myelination |
OMIM:614261 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:619260 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Loss of ambulation, Irritability, Dystonia |
OMIM:615010 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Optic atrophy, Peripheral demyelination |
OMIM:609033 |
| Molybdenum Cofactor Deficiency, Type B |
|
Cerebral atrophy, Peripheral demyelination, Diffuse cerebral atrophy, Gliosis, Axonal loss |
OMIM:252160 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Oculogyric crisis, Limb dystonia, Emotional lability, Myoclonus, Irritability, Bab... |
OMIM:608643 |
| 4H Leukodystrophy |
|
Cerebral hypomyelination |
ORPHA:289494 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre... |
OMIM:612953 |
| Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Optic atrophy, Cerebral cortical atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Atrophy/... |
OMIM:271245 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Oculogyric crisis, Spastic tetraparesis, Abnormality of coordination, Limb dyston... |
ORPHA:352649 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Shuffling gait, Spastic tetraplegia, Resting tremor, Bradykinesia, Emotional ... |
OMIM:300055 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Tremor, Loss of ambulation, ... |
ORPHA:137898 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Inherited Creutzfeldt-Jakob Disease |
|
Depression, Progressive extrapyramidal muscular rigidity, Chorea, Gait ataxia, Emotional lability... |
ORPHA:282166 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tongue fasciculations, Difficulty walking, Myoclonus, Tremor, Frequent falls, Degeneration of ant... |
OMIM:159950 |
| L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Corpus callosum atrophy, Gliosis, Severe... |
OMIM:236792 |
| Lafora Disease |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Giant somatosens... |
ORPHA:501 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
CNS hypomyelination, Leukodystrophy |
OMIM:619576 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Febrile seizure (within the age range of 3 months to 6 years), Inability to walk, Gait ataxia, Fo... |
OMIM:618917 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Fasciculations, Postural tremor, Limb ataxia, Myoclonus... |
OMIM:183090 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Depression, Generalized dystonia, Emotional lability, Tremor, Abnormality of extrapyr... |
OMIM:614298 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Seizure, Head titubation, Absent brainstem auditory responses, Hypochromic microcytic anemia, Thr... |
ORPHA:3240 |
| Behr Syndrome |
|
Tremor, Dysmetria, Babinski sign, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Progre... |
OMIM:210000 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Stiff Person Spectrum Disorder |
|
Falls, Difficulty walking, Emotional lability, Rigidity, Exaggerated startle response |
ORPHA:3198 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetria, Tremor, EEG abnormality, Bila... |
ORPHA:529665 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Depression, Hearing impairment, Seizure, Inability to walk, Exaggerated startle response |
OMIM:620114 |
| Multiple System Atrophy, Parkinsonian Type |
|
Depression, Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism,... |
ORPHA:98933 |
| Multiple System Atrophy, Cerebellar Type |
|
Broad-based gait, Depression, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dy... |
ORPHA:227510 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination |
OMIM:618186 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Dysm... |
OMIM:609270 |
| Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Status epilepticus, Dystonia, Focal imp... |
OMIM:613970 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
ORPHA:329284 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Severe demyelination of the white matter, CNS hypomyelination |
ORPHA:481152 |
| Adenylosuccinase Deficiency |
|
Cerebral hypomyelination, CNS hypomyelination |
OMIM:103050 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor function, Progressiv... |
ORPHA:98773 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... |
OMIM:619428 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Choreoathetosis, Bilateral tonic-clonic seizure, Episodic ataxia |
ORPHA:53583 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Gait ataxia, Action tremor... |
ORPHA:101 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Bradykinesia, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Ataxia, Dystoni... |
OMIM:619725 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Depression, Falls, Bradykinesia, Emotional lability, Tremor, Irritability, Rigidit... |
ORPHA:683 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination |
OMIM:615966 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Depression, Oculogyric crisis, Resting tremor, Akinesia, Paresthesia, Cogw... |
ORPHA:97349 |
| Developmental And Epileptic Encephalopathy 29 |
|
CNS hypomyelination |
OMIM:616339 |
| Molybdenum Cofactor Deficiency, Type A |
|
Axonal loss, Peripheral demyelination, Gliosis, Cerebral atrophy |
OMIM:252150 |
| Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:272200 |
| Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Tremor, Rigidity, Gait disturbance, Ataxia |
OMIM:603472 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Depression, Generalized dystonia, Inability to walk, Tremor, Babinski sign, Tortic... |
OMIM:128100 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Delayed CNS myelination, Cerebellar atrophy, Gliosis, Cerebral atrophy |
OMIM:615095 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Unsteady gai... |
OMIM:617435 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration |
ORPHA:88628 |
| Pick Disease Of Brain |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:172700 |
| Perry Syndrome |
|
Short stepped shuffling gait, Depression, Inappropriate behavior, Bradykinesia, Akinesia, Tremor,... |
OMIM:168605 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
CNS hypomyelination |
OMIM:616239 |
| Ataxia With Vitamin E Deficiency |
|
Tremor, Dysmetria, Hemiplegia/hemiparesis, Gait disturbance, Abnormal pyramidal sign, Hypertonia,... |
ORPHA:96 |
| Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Seizure, Inability to walk, EEG with generalized slow activity, Irritability, Exaggerated startle... |
OMIM:617864 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
| Developmental And Epileptic Encephalopathy 8 |
|
Tonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Exaggerated star... |
OMIM:300607 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Ataxia |
OMIM:612016 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
CNS hypomyelination, Delayed myelination |
OMIM:614922 |
| Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
|
Depression, Focal hyperkinetic seizure, Increased theta frequency activity in EEG, Paroxysmal dys... |
ORPHA:98784 |
| Neuroferritinopathy |
|
Blepharospasm, Arm dystonia, Involuntary movements, Resting tremor, Bradykinesia, Difficulty walk... |
ORPHA:157846 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Cerebral hypomyelination, Delayed myelination |
OMIM:616683 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Broad-based gait, Difficulty walking, Tremor, Babinski sign |
ORPHA:477673 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Developmental And Epileptic Encephalopathy 102 |
|
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... |
OMIM:619881 |
| Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
| Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
CNS hypomyelination |
OMIM:619423 |
| Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... |
OMIM:121200 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Ataxia, Tem... |
ORPHA:1215 |
| Glutathionuria |
|
Action tremor, Dysdiadochokinesis, Tremor |
OMIM:231950 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
CNS hypomyelination, Amyotrophic lateral sclerosis |
ORPHA:300605 |
| Sandhoff Disease, Infantile Form |
|
CNS hypomyelination |
ORPHA:309155 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Seizures, Benign Familial Infantile, 2 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:605751 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Tremor, Reduced social reciprocity, Gait disturbance, Abnormality of pain sensation, Ataxia, Poor... |
ORPHA:544254 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Myoclonus, Dysmetria, EEG abnormality, Bilateral tonic-clonic seiz... |
ORPHA:313772 |
| Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Decreased number of peripheral my... |
ORPHA:320406 |
| Neuropathy, Hereditary Sensory, Type Ie |
|
Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Myoclonus, Dysmetria, Spastic ataxia, Bilateral tonic-clonic seizu... |
OMIM:614487 |
| Multiple System Atrophy |
|
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... |
ORPHA:102 |
| Abcd Syndrome |
|
Abnormal auditory evoked potentials, Hearing impairment, Polycythemia, Aganglionic megacolon, Tot... |
OMIM:600501 |
| Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Depression, Postural tremor, Limb ataxia, Gait ataxia, Abnormal ves... |
OMIM:193003 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Facial diplegia, Axonal degeneration/regeneration, Peripheral axonal neuropathy, Demyelinating pe... |
OMIM:218000 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Febrile Seizures, Familial, 11 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... |
OMIM:614418 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral hypomyelination |
ORPHA:438114 |
| Combined Saposin Deficiency |
|
CNS demyelination |
OMIM:611721 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
CNS hypomyelination, Delayed myelination |
ORPHA:88618 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Decreased number of ... |
OMIM:604360 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Difficulty walking, Head tremor, Myoclonus, Axial dystonia, Craniofacial dystonia, Limb tremor, T... |
ORPHA:420492 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Pseudobulbar paralysis, Tremor, Babinski sign, Gait disturbance, ... |
OMIM:616586 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Abnormal myelination |
ORPHA:85179 |
| 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 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral atrophy, Peripheral demyelination, Peripheral hypomyelination, Demyelinating peripheral ... |
OMIM:609136 |
| Perry Syndrome |
|
Parkinsonism, Depression, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Dysmetria, Tremor, Distal sensory impairment, Babinski sign, Steppage gai... |
OMIM:616505 |
| Peroxisome Biogenesis Disorder 5B |
|
Tremor, Dysmetria, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Falls, Progressive extrapyramidal muscular rigidity, Bradykinesia, Akinesia, Gait ... |
ORPHA:240071 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Peho Syndrome |
|
Peripheral dysmyelination, Optic atrophy, Cerebellar atrophy, Neuronal loss in central nervous sy... |
OMIM:260565 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Demyelin... |
ORPHA:99948 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination |
OMIM:612949 |
| Parkinson Disease, Late-Onset |
|
Short stepped shuffling gait, Depression, Resting tremor, Bradykinesia, Tremor, Rigidity, Parkins... |
OMIM:168600 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Peripheral hypomyelination |
ORPHA:48431 |
| Adrenomyeloneuropathy |
|
Axonal degeneration, Peripheral axonal degeneration, Atrophy of the spinal cord, Cerebral dysmyel... |
ORPHA:139399 |
| Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Chorea, Limb ataxia, Gait ataxia, Head tremor, Tremor, Increased circulating antibody level, Prog... |
OMIM:606002 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Peripheral demyelination, Pontocere... |
ORPHA:171629 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Myoclonic seizure, Seizure, EEG with burst suppression, Infantile spasms, Myoclonus, Irritability... |
OMIM:620423 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper limb postural tremor, Ataxia, Abnormal auditory evoked potentials, Dysdiadochokinesis, Abno... |
ORPHA:99027 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Trem... |
OMIM:619574 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Gait ataxia, Myoclonus, Tremor, Impaired tactile sensation, Hypertonia, Ataxia |
OMIM:619092 |
| De Sanctis-Cacchione Syndrome |
|
Optic atrophy, Global brain atrophy, Cerebral atrophy, Leukodystrophy, Axonal degeneration |
OMIM:278800 |
| Tay-Sachs Disease |
|
Depression, Decerebrate rigidity, Laryngeal dystonia, Inability to walk, Incoordination, Frequent... |
ORPHA:845 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination |
ORPHA:280210 |
| Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Tremor, Rigidity |
OMIM:616361 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination |
OMIM:612951 |
| Saccharopinuria |
|
Tremor, Gait ataxia, Distal sensory impairment, Spastic diplegia |
ORPHA:3124 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Cerebral palsy, Tremor, Lethargy, Gait disturbance, Abnormal pyramidal sign, Ataxia, ... |
ORPHA:765 |
| Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Inability to walk, Spasticity, Paroxysmal bursts of laughter, Tremor |
OMIM:618718 |
| Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination |
OMIM:250100 |
| Cerebrotendinous Xanthomatosis |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Hypermyelinated ret... |
ORPHA:909 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Abnormality of extrapyramidal motor function... |
OMIM:613280 |
| Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Depression, Resting tremor, Bradykinesia, Myoclonus, Rigidity, Loss of ambulation... |
OMIM:168601 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Shuffling gait, Fasciculations, Tremor, Loss of ambulation, Waddling gait |
ORPHA:209335 |
| Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Myoclonus, Clonus, Exaggerated startle response |
OMIM:618201 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Akinesia, Tremor, Rigidity, Parkinsonism, Dystonia |
OMIM:300894 |
| Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Poor motor coordination, Spasticity, Tetraparesis, Limb dystonia, Gait ataxia, Tremor, Myoclonus,... |
ORPHA:363400 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Hearing impairment, Se... |
ORPHA:206436 |
| Gaba-Transaminase Deficiency |
|
Leukodystrophy |
OMIM:613163 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Hand tremor, Inability to walk, Decreased nerve conduction velocity, Head tremor, Limb ataxia, Ga... |
ORPHA:101085 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Facial palsy, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral ... |
OMIM:256850 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Spastic paraplegia, Inability to walk, Ankle clonus, Babinski sign, Exaggerated startle response |
OMIM:609541 |
| Spontaneous Periodic Hypothermia |
|
Gait disturbance, Tremor, Ataxia |
ORPHA:29822 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
CNS demyelination, Leukodystrophy |
OMIM:264470 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Involuntary movements, Difficulty walking, Abnormality of coordination, Myoclonus, Tr... |
ORPHA:442835 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Gait ataxia, Tremor, Dysmetria, Limb hypertonia, Hypertonia, Exaggerated star... |
OMIM:618056 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
CNS hypomyelination |
OMIM:617193 |
| Parkinson Disease 20, Early-Onset |
|
Short stepped shuffling gait, Shuffling gait, Involuntary movements, Bradykinesia, Tremor, Rigidi... |
OMIM:615530 |
| Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:618688 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:90103 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Shuffling gait, Spasticity, Resting tremor, Akinesia, Gait ataxia, Intention tremor, Rigidity, Ba... |
ORPHA:247234 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Gliosis, Neuronal loss in... |
OMIM:256600 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism, Resting tremor, Rigidity |
OMIM:614251 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination |
ORPHA:280219 |
| Sandhoff Disease |
|
CNS hypomyelination |
OMIM:268800 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Stiff-Person Syndrome |
|
Depression, Opisthotonus, Myoclonic spasms, Exaggerated startle response, Anemia |
OMIM:184850 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
| Hyperekplexia 3 |
|
Myoclonus, Bilateral tonic-clonic seizure, Exaggerated startle response |
OMIM:614618 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Delayed CNS myelination |
OMIM:618832 |
| Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Spasticity, Spastic paraplegia, Dysmetria, Babinski sign, Abnormal ... |
ORPHA:459056 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Impaired T cell function, Emotional lability, Tremor, Irritability, Lethargy, Ataxia |
OMIM:201100 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials |
OMIM:617523 |
| Gm2-Gangliosidosis, Ab Variant |
|
Spastic tetraparesis, Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle... |
OMIM:272750 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Abnormal myelination |
ORPHA:352682 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favo... |
OMIM:311510 |
| Sneddon Syndrome |
|
Decreased circulating total IgM, Hemiplegia, Tremor, Impaired distal tactile sensation |
OMIM:182410 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Choreoacanthocytosis |
|
Resting tremor, Limb dystonia, Emotional lability, Hair-pulling, Loss of ambulation, Parkinsonism... |
ORPHA:2388 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers |
OMIM:162400 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
CNS hypomyelination, Leukodystrophy |
OMIM:619708 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
CNS hypomyelination |
OMIM:618922 |
| Myopathy, Mitochondrial, And Ataxia |
|
Depression, Difficulty walking, Inability to walk, Limb ataxia, Dysmetria, Distal sensory impairm... |
OMIM:617675 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Depression, Bradykinesia, Myoclonus, Tr... |
ORPHA:199351 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site |
ORPHA:168563 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy |
OMIM:618242 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
CNS demyelination |
OMIM:618237 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebral hypomyelination, Delayed CNS myelination, CNS hypomyelination |
OMIM:618367 |
| Developmental And Epileptic Encephalopathy 49 |
|
Optic atrophy, Myoclonic seizure, Myoclonus, Tonic seizure, EEG abnormality, Bilateral tonic-clon... |
OMIM:617281 |
| Childhood Absence Epilepsy |
|
Myoclonic absence seizure, Depression, Typical absence seizure, Limb myoclonus, EEG with spike-wa... |
ORPHA:64280 |
| Hyperekplexia 1 |
|
Myoclonus, Nocturnal seizures, Seizure, Exaggerated startle response |
OMIM:149400 |
| Cockayne Syndrome Type 1 |
|
Optic atrophy, Hearing impairment, Seizure, Difficulty walking, Abnormality of peripheral nerve c... |
ORPHA:90321 |
| O'Sullivan-Mcleod Syndrome |
|
Increased circulating antibody level, Tremor, Fasciculations |
ORPHA:99965 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
| Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant |
|
Optic atrophy, Depression, Narcolepsy, Sensorineural hearing impairment, Ataxia |
OMIM:604121 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Seizure, Sensorineural hearing impairment |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal auditory evoked potentials, Hemolytic anemia, Seizure, Sensorineural hearing impairment |
ORPHA:529799 |
| Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Optic atrophy, Depression, Resting tremor, Narcolepsy, Head tremor, Sensorineural hearing impairm... |
ORPHA:314404 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy |
OMIM:618006 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Tremor, Hemiparesis, Dysmetria, Apraxia |
OMIM:602481 |
| Kanzaki Disease |
|
Peripheral axonal neuropathy, Cerebral atrophy, Axonal degeneration |
OMIM:609242 |
| Glutaric Acidemia I |
|
Symmetrical progressive peripheral demyelination, Delayed myelination |
OMIM:231670 |
| 3-Methylglutaconic Aciduria, Type Viia |
|
Myoclonic seizure, Generalized-onset seizure, Anemia, Bilateral tonic-clonic seizure, Anisopoikil... |
OMIM:619835 |
| Frontal Encephalocele |
|
Leukodystrophy |
ORPHA:1931 |
| Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Depression, Fasciculations, Difficulty walking, Tremor, Parkinsonism, Frequent falls |
ORPHA:329478 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Hypermye... |
OMIM:270550 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Akinesia, Tremor, Rigidit... |
ORPHA:48818 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Cerebral atrophy, Delayed peripheral myelination |
ORPHA:464282 |
| Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607060 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Optic atrophy, Cerebral atrophy, Peripheral demyelination, Atrophy of the spinal cord, Severe dem... |
ORPHA:79282 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cerebral hypomyelination |
ORPHA:247262 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:79351 |
| Young-Onset Parkinson Disease |
|
Spasticity, Depression, Bradykinesia, Gait imbalance, Tremor, Reduced social reciprocity, Rigidit... |
ORPHA:2828 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
| Niemann-Pick Disease Type C |
|
Depression, Hearing impairment, Seizure, Generalized-onset seizure, Narcolepsy, Hepatosplenomegal... |
ORPHA:646 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral hypomyelination |
ORPHA:457351 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Peripheral axonal neuropathy, Facial diplegia, Decreased number of peripheral myel... |
ORPHA:254930 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:614501 |
| Typhoid |
|
Lethargy, Hypertonia, Tremor, Ataxia |
ORPHA:99745 |
| Fucosidosis |
|
CNS hypomyelination |
OMIM:230000 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:617964 |
| Mogs-Cdg |
|
Optic atrophy, Seizure, Hepatosplenomegaly, Sensorineural hearing impairment, Absent brainstem au... |
ORPHA:79330 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
CNS hypomyelination |
OMIM:615356 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Positive Romberg sign, Tremor, Hemipare... |
OMIM:105210 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination |
OMIM:618193 |
| Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:109120 |
| Pyruvate Carboxylase Deficiency |
|
CNS hypomyelination, Delayed myelination |
ORPHA:3008 |
| Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:300523 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy |
OMIM:614932 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
| East Syndrome |
|
Peripheral axonal neuropathy, Cerebellar atrophy, Peripheral hypomyelination |
ORPHA:199343 |
| Hyperekplexia 2 |
|
Myoclonus, Hypertonia, Exaggerated startle response |
OMIM:614619 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Depression, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent... |
OMIM:612716 |
| Early Infantile Epileptic Encephalopathy |
|
Generalized non-motor (absence) seizure, Episodic ataxia, Seizure, EEG with burst suppression, Un... |
ORPHA:1934 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebral hypomyelination |
ORPHA:496641 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Low-set ears, Optic atrophy, Epilepsia partialis continua, Difficulty walking, Gait ataxia, Myocl... |
OMIM:620451 |
| Ataxia-Telangiectasia |
|
Decreased circulating IgG level, Defective B cell differentiation, Inability to walk, Decreased c... |
OMIM:208900 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Cerebellar atrophy, Mot... |
ORPHA:466768 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Demye... |
ORPHA:298 |
| 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, Seizure, Ataxia, Dystonia, Abnormal pinna morphology, Exaggerated startle response |
ORPHA:438216 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Falls, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Abnormal pyramidal... |
ORPHA:447753 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Spasticity, Depression, Bradykinesia, Akinesia, Tremor, Rigidity, Abnormality of e... |
OMIM:234200 |
| Arthrogryposis, Distal, Type 2A |
|
Abnormal auditory evoked potentials, Hearing impairment, Seizure |
OMIM:193700 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:201300 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Leukodystrophy, Sudanophilic leukodystrophy |
OMIM:260600 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Neurofibroma, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Delayed myelination |
OMIM:619475 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy |
OMIM:619851 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:618225 |
| Asparagine Synthetase Deficiency |
|
Seizure, EEG with burst suppression, Tremor, Irritability, Simple ear, Hypsarrhythmia, Exaggerate... |
OMIM:615574 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, CNS demyelination |
OMIM:619653 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Akinesia, Gait imbalance, Retrocollis, Limb dystonia, Axial dystonia, Tremor, Irritability... |
OMIM:601104 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:619224 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Depression, Tremor, Ataxia |
ORPHA:79095 |
| Schilder Disease |
|
CNS demyelination |
ORPHA:59298 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Fasciculations, Limb hypertonia, Tremor, Exaggerated startle response |
OMIM:620327 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
| Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination |
OMIM:619641 |
| Cockayne Syndrome A |
|
Optic atrophy, Abnormal auditory evoked potentials, Seizure, Decreased nerve conduction velocity,... |
OMIM:216400 |
| Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy |
OMIM:612952 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Segmental peripheral demyelination/remyelination, Optic atrophy, Demyelinating peripheral neuropathy |
ORPHA:255210 |
| Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:616034 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Waardenburg Syndrome, Type 4A |
|
Leukodystrophy |
OMIM:277580 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Leukodystrophy |
OMIM:612233 |
| Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic atrophy, Optic neuropathy, Onion bulb formation |
ORPHA:320375 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Irritability, Hair-pulling, Lower limb spasticity, Clonus, Myoclonic spasms, Hypertonia |
ORPHA:447997 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Peripheral demyelination, CNS demyelination, Gliosis |
OMIM:220111 |
| Tay-Sachs Disease |
|
Seizure, Exaggerated startle response |
OMIM:272800 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Impaired T cell function, Tetraparesis... |
OMIM:613179 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
CNS hypomyelination |
ORPHA:268261 |
| Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Seizure, Decreased nerve conduction velocity,... |
OMIM:133540 |
| Aicardi-Goutieres Syndrome 4 |
|
Leukodystrophy |
OMIM:610333 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Irritability, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
| Metachromatic Leukodystrophy |
|
Tip-toe gait, Decerebrate rigidity, Incoordination, Emotional lability, Tremor, Gait disturbance,... |
ORPHA:512 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination |
ORPHA:289266 |
| Dpagt1-Cdg |
|
CNS hypomyelination |
ORPHA:86309 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia |
OMIM:146500 |
| Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Leukodystrophy |
OMIM:615330 |
| Trisomy 10P |
|
Low-set ears, Abnormal auditory evoked potentials, Seizure, EEG with burst suppression, Focal clo... |
ORPHA:171929 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Leukodystrophy |
OMIM:618226 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Leukodystrophy |
ORPHA:401866 |
| Neuromuscular Oculoauditory Syndrome |
|
Sensory axonal neuropathy, Peripheral hypomyelination |
OMIM:618733 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed myelination, CNS demyelination |
OMIM:214150 |
| Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Chronic axonal neuropathy, Cerebellar atrophy, Peripheral hypomyelination |
OMIM:612780 |
| Leigh Syndrome, Nuclear |
|
CNS demyelination |
OMIM:256000 |
| Trichotillomania |
|
Hair-pulling |
OMIM:613229 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Seizure, Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Hyps... |
ORPHA:521426 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Tongue fasciculations, Exaggerated startle response |
OMIM:608800 |
| Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Cerebellar atrophy, Facial paralysis, Decreased number of peripheral myelinated ne... |
ORPHA:99949 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers |
ORPHA:477817 |
| Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Hair-pulling, Ataxia |
OMIM:616393 |
| Wiedemann-Rautenstrauch Syndrome |
|
CNS hypomyelination, Leukodystrophy |
ORPHA:3455 |
| Narcolepsy 3 |
|
Narcolepsy |
OMIM:609039 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Leukodystrophy |
OMIM:616140 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Dysmetria, Loss of ambulation, Babinski sign, Abnormal pyramidal... |
OMIM:616680 |
| Gm1 Gangliosidosis Type 1 |
|
Low-set ears, Hearing impairment, Seizure, Hepatosplenomegaly, Exaggerated startle response, Macr... |
ORPHA:79255 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Clonus, Hypertonia, Exaggerated startle response |
OMIM:617301 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Low-set ears, Optic atrophy, Seizure, Generalized-onset seizure, Exaggerated startle response, Po... |
OMIM:617527 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Leukodystrophy |
OMIM:619051 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Leukodystrophy |
OMIM:617762 |
| Narcolepsy 1 |
|
Narcolepsy |
OMIM:161400 |
| Orofaciodigital Syndrome Xiv |
|
CNS hypomyelination |
OMIM:615948 |
| Canavan Disease |
|
CNS demyelination |
OMIM:271900 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Leukodystrophy |
OMIM:614299 |
| Narcolepsy 7 |
|
Narcolepsy |
OMIM:614250 |
| Marchiafava-Bignami Disease |
|
CNS demyelination |
ORPHA:221074 |
| Mend Syndrome |
|
Low-set ears, Abnormal auditory evoked potentials, Seizure |
ORPHA:401973 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cerebral hypomyelination |
ORPHA:513456 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Optic atrophy, Seizure, Exaggerated startle response |
OMIM:253800 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers |
OMIM:256800 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
| Rere-Related Neurodevelopmental Syndrome |
|
CNS demyelination |
ORPHA:494344 |
| Bohring-Opitz Syndrome |
|
Delayed peripheral myelination |
OMIM:605039 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Leukodystrophy |
OMIM:614462 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Myelin outfoldings |
ORPHA:99956 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
CNS hypomyelination |
OMIM:619534 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination |
ORPHA:440713 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Pain insensitivity, Broad-based gait, Emotional lability, Hair-pulling, Dystonia |
OMIM:620330 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Leukodystrophy |
ORPHA:431361 |
| Alg8-Cdg |
|
Leukodystrophy |
ORPHA:79325 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:223900 |
| African Trypanosomiasis |
|
Seizure, Difficulty walking, Narcolepsy, Akinesia, Hepatosplenomegaly, Splenomegaly, Tremor, Irri... |
ORPHA:3385 |
| 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 |
| Peroxisome Biogenesis Disorder 6B |
|
Leukodystrophy |
OMIM:614871 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
CNS demyelination |
OMIM:620646 |
| Immunodeficiency 23 |
|
Abnormal CNS myelination |
OMIM:615816 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Depression, Seizure, Narcolepsy, Emotional lability, Sensorineural hearing impairment, Abnormal a... |
ORPHA:293987 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:615471 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Leukodystrophy |
ORPHA:370997 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Bilateral tonic-clonic seizure on awakening, Seizure, Inability to walk, Epilep... |
ORPHA:438213 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination |
OMIM:610651 |
| Hurler Syndrome |
|
Abnormal CNS myelination |
OMIM:607014 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
| Aicardi-Goutieres Syndrome 1 |
|
CNS demyelination |
OMIM:225750 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Diffuse demyelination of the cerebral white matter, CNS demyelination |
ORPHA:139396 |
| Secondary Syringomyelia |
|
CNS demyelination |
ORPHA:99857 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Abnormal CNS myelination, Abnormal myelination |
OMIM:620371 |
| Monosomy 22Q13.3 |
|
Impaired pain sensation, Hair-pulling |
ORPHA:48652 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Leukodystrophy |
ORPHA:309256 |
| Acute Disseminated Encephalomyelitis |
|
CNS demyelination |
ORPHA:83597 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Leukodystrophy |
ORPHA:309263 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CNS demyelination |
OMIM:603553 |
| Glycogen Storage Disease Ii |
|
Abnormal CNS myelination |
OMIM:232300 |
| Leigh Syndrome |
|
Leukodystrophy |
ORPHA:506 |
| Peroxisome Biogenesis Disorder 1B |
|
Leukodystrophy |
OMIM:601539 |
| Monosomy 18Q |
|
Abnormal myelination |
ORPHA:1600 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Leukodystrophy |
ORPHA:79124 |
| Cornelia De Lange Syndrome 6 |
|
Hair-pulling |
OMIM:620568 |
| Metachromatic Leukodystrophy, Adult Form |
|
Leukodystrophy |
ORPHA:309271 |
| Isolated Complex I Deficiency |
|
Leukodystrophy |
ORPHA:2609 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Leukodystrophy |
OMIM:612199 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Abnormal myelination, Delayed myelination |
ORPHA:404454 |
| Rabson-Mendenhall Syndrome |
|
CNS demyelination |
ORPHA:769 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
CNS demyelination |
OMIM:620024 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Leukodystrophy |
OMIM:619575 |
| Cockayne Syndrome Type 3 |
|
Abnormal myelination, Demyelinating peripheral neuropathy |
ORPHA:90324 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination |
ORPHA:309854 |
| Bickerstaff Brainstem Encephalitis |
|
Acute demyelinating polyneuropathy, CNS demyelination |
ORPHA:79138 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukodystrophy |
OMIM:252010 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Low-set ears, Seizure, Exaggerated startle response, Posteriorly rotated ears, Small earlobe, Mic... |
OMIM:619522 |
| Aicardi-Goutières Syndrome |
|
Leukodystrophy, Demyelinating peripheral neuropathy |
ORPHA:51 |
| Acute Transverse Myelitis |
|
CNS demyelination |
ORPHA:139417 |
| Degcags Syndrome |
|
Abnormal myelination |
OMIM:619488 |
| Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |
