Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Difficulty walking, Steppage gait |
OMIM:618279 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Progressive gait ataxia, Demyelinating motor neuropathy, Symmet... |
ORPHA:208981 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Sensory axonal neuropathy, Gait disturbance, Motor axonal n... |
ORPHA:98765 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation, Steppage gait |
OMIM:616039 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration, Steppage gait |
OMIM:615185 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Sensorineural hearing impairment, Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia, Axonal loss |
OMIM:212890 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Elevated circulating creatine kinase concentration, Tremor, Incoordination, Spasti... |
OMIM:160120 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... |
OMIM:604484 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Lower limb spasticity, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:401840 |
Null Syndrome |
|
Ataxia, Inability to walk, Demyelinating peripheral neuropathy, Decreased nerve conduction veloci... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Sensorineural hearing impairment, Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Hypoesthesia, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Sensorineural hearing impairment, Ataxia, Difficulty walking, Hearing impairment, Dystonia, Perip... |
OMIM:616684 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... |
OMIM:601068 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity... |
OMIM:614561 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impairment |
ORPHA:217012 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Progressive sensorineural hearing impairment |
OMIM:208850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Spastic Paraplegia 61, Autosomal Recessive |
|
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity |
OMIM:615685 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Hypertonia, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus |
OMIM:607584 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Sensorineural hearing impairment, Ataxia |
OMIM:212850 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Demyelinating motor neuropathy, Tremor, Difficulty walking, Abnormality of somatosensory evoked p... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Megalencephaly With Dysmyelination |
|
EEG with photoparoxysmal response, Cerebral dysmyelination, Ataxia, Spasticity |
OMIM:249240 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Sensorineural hearing impairment, Impaired vibration sensation at ankles, Dysdiadochokinesis, Bab... |
ORPHA:101007 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrapyramidal motor function... |
OMIM:617672 |
Intellectual Developmental Disorder, Autosomal Recessive 63 |
|
Inability to walk, Spasticity, Interictal epileptiform activity, Hypotonia |
OMIM:618095 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Seizure, Enha... |
OMIM:615127 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... |
ORPHA:101097 |
Episodic Ataxia Type 5 |
|
Vertigo, Ataxia, Truncal ataxia |
ORPHA:211067 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Peripheral hypomyelination, Decreased nerve conduction velocity, Onion bulb formation, Decreased ... |
OMIM:611228 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Status epilepticus, Inability to walk, Delayed myelination, Seizure, Tetraplegia |
OMIM:618331 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... |
OMIM:311070 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia |
OMIM:136600 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia |
ORPHA:2672 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS hypomyelination |
OMIM:616494 |
Spastic Paraparesis And Deafness |
|
Tremor, Hearing impairment, Spastic paraparesis, Hypogonadism |
OMIM:312910 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia |
OMIM:209100 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Hypertonia, Clumsiness, Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated ner... |
ORPHA:2386 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Impaired distal proprioception, Peripheral demyelination |
ORPHA:231445 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment, Adult onset sensorineural hearing impairment |
OMIM:212710 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Sensory ataxia, Decreased sensory nerve conduction velocity, Myelin tomacula, S... |
OMIM:145900 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Limb ataxia, Leukodystrophy, Abnormal pyramidal sign, Truncal ataxia, Head titubatio... |
OMIM:617560 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Dystonia, Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Dysesthesia, Onion bulb formation, Unsteady gait, Acute demyelinating polyneuropathy |
ORPHA:98916 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Distal sensor... |
OMIM:608340 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Axonal degeneration, Spastic paraparesis, Dysd... |
OMIM:615157 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Generalized hypotonia, Gait ataxia, CNS demye... |
OMIM:249900 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
|
Broad-based gait, Positive Romberg sign, Distal sensory impairment, Optic atrophy, Gait ataxia, P... |
OMIM:258650 |
Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Distal sensory impairment, Opt... |
OMIM:615035 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Sensorineural hearing impairment, Distal sensory impairment, Axonal degeneration/regeneration, Pe... |
OMIM:607736 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Loss of ambulation, Limb at... |
OMIM:208920 |
Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Ataxia, Clumsiness, EEG abnormality, Acroparesthesia, Hoffmann sign... |
ORPHA:206448 |
Spastic Paraparesis-Deafness Syndrome |
|
Sensorineural hearing impairment, Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait distu... |
ORPHA:2815 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Onion bulb formation, Decreased motor nerve conduction velocit... |
OMIM:607706 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... |
OMIM:612438 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Abnormality of somatosensory evoked potentials, Ataxia, Abnorma... |
ORPHA:320401 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Babinski sign, Lower limb spasticity, Difficulty walking, Progressive ... |
ORPHA:401820 |
Spinocerebellar Ataxia Type 37 |
|
Sensorineural hearing impairment, Myoclonus, Dysdiadochokinesis, Truncal ataxia, Falls, Limb dysm... |
ORPHA:363710 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of peripheral nerve con... |
ORPHA:431329 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Distal senso... |
OMIM:118200 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Positive Romberg sign, Prelingual sensorineural hearing impa... |
OMIM:616515 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
Leukodystrophy, Hypomyelinating, 18 |
|
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Babinski sig... |
OMIM:618404 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Distal muscle weakness, Tremor, Difficulty walking, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, EEG abnormality, Spasticity, Hypotonia |
OMIM:619228 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Cavitating leukodystrophy, Seizure, Ataxia |
OMIM:619061 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Sensorineural hearing impairment, Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ank... |
OMIM:270500 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Leukodystrophy, Hypomyelinating, 13 |
|
Hypertonia, Ataxia, Delayed myelination, Leukodystrophy, Optic atrophy, Spasticity, Clonus |
OMIM:616881 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis, Upper motor neuron dysfunction, Decreased nerve conduction velocity |
OMIM:612577 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:213000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve cond... |
ORPHA:65684 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy... |
ORPHA:99944 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Hypertonia, Gliosis, Delayed myelination, Cerebral atrophy, Spasticity, Cerebellar atrophy, CNS h... |
OMIM:615095 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Cerebral atrophy, Leukodystrophy, Abnormal pyramidal sign, Head titubation, Progressive s... |
ORPHA:527497 |
Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Dysmetria, Impaired vibration sensation in the lower lim... |
OMIM:610245 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration, Distal sensor... |
OMIM:607791 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Cerebral atrophy, Demyelinating motor neuropathy, Spastic paraparesis, Intention tremor, ... |
OMIM:608804 |
Cataract-Ataxia-Deafness Syndrome |
|
Sensorineural hearing impairment, Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor... |
ORPHA:1368 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Spastic paraplegia, Ataxia, CNS hypomyelination, Peripheral axonal neuropathy |
OMIM:619688 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
|
Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... |
OMIM:619964 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Sudanophilic leukodystrophy, Optic atrophy,... |
OMIM:312080 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Sensorineural hearing impairment, Segmental peripheral demyelination/remyelination, Onion bulb fo... |
OMIM:604563 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebral hypomyelination, Optic atrophy, Cerebellar at... |
OMIM:300475 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Tip-toe gait, Babinski sign, Difficulty walking, Spasticity, Clonus, Spastic gait, Lower limb spa... |
OMIM:615681 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Spastic paraplegia, Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor n... |
OMIM:182815 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Lower limb spasticity, Progressive spastic paraplegia, Hearing i... |
ORPHA:401830 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Sensorineural hearing impairment, Ataxia, Leukodystrophy, Abnormal pyramidal sign, Peripheral axo... |
OMIM:619196 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigra gliosis, Dystonia |
OMIM:600116 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Ataxia, CNS hypomyelination |
ORPHA:88637 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Leukodystrophy, Spastic diplegia, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Gait dis... |
OMIM:616859 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
Leukodystrophy, Hypomyelinating, 5 |
|
Loss of ambulation, Truncal titubation, Intention tremor, Onion bulb formation, Decreased motor n... |
OMIM:610532 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... |
OMIM:608105 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Leukodystrophy, Babinski sign, ... |
OMIM:607694 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Hearing impairment, Abnormal nerve con... |
ORPHA:101075 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Hearing impairment, Myoclonus, Ataxia |
OMIM:159800 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Mildly elevated creatine kinase |
OMIM:614369 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Hearing impairment, Abnormality of extrapyramidal motor... |
OMIM:165300 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
Krabbe Disease |
|
Hypertonia, EEG abnormality, Decreased nerve conduction velocity, Decerebrate rigidity, Optic atr... |
OMIM:245200 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia, Tremor |
OMIM:264070 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Intention tremor, Myoclonus, Progressive gait ataxia, Bilateral se... |
ORPHA:2589 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Hypertonia, Ataxia, EEG abnormality, Optic atrophy, Hearing impairment |
ORPHA:2732 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Hypertonia, Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Diffuse cerebellar atrophy, Progres... |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Spasticity, Cerebella... |
OMIM:619742 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Loss of ambulation, Cerebral atrophy, Intention tremor, Leukodystrophy, Abnormal pyramida... |
OMIM:617951 |
Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Cerebral atrophy, Optic atrophy, Gait disturbance, Cerebellar atrophy, Spastic... |
OMIM:618012 |
Periventricular Nodular Heterotopia 8 |
|
Delayed myelination, Spasticity, Seizure |
OMIM:618185 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... |
OMIM:617831 |
Ataxia, Deafness, And Cardiomyopathy |
|
Sensorineural hearing impairment, Ataxia |
OMIM:208750 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Continuous Spikes And Waves During Sleep |
|
Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... |
ORPHA:725 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Tremor, Dystonia |
OMIM:168100 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... |
OMIM:615686 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
Spinocerebellar Ataxia 31 |
|
Sensorineural hearing impairment, Ataxia, Gait ataxia, Limb ataxia |
OMIM:117210 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation, H... |
ORPHA:101078 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
Spastic tetraparesis, CNS hypomyelination |
ORPHA:280224 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... |
OMIM:607458 |
Phosphoserine Phosphatase Deficiency |
|
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation, Seizure |
OMIM:614023 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Frequent falls, Babinski sign, Chaddock reflex, Decreased compound muscle action potential amplitude |
OMIM:619112 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
Hypomyelination-Congenital Cataract Syndrome |
|
Abnormal pyramidal sign, Cerebral hypomyelination |
ORPHA:85163 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... |
ORPHA:94122 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Diffuse cerebral atrophy, Tremor, Gait disturbance |
OMIM:300660 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616187 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Para... |
OMIM:606777 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Cerebral hypomyelination, Optic atrophy, Gait disturbance, Spasticity, Unsteady gait, CN... |
OMIM:603896 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... |
OMIM:600361 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Epileptic spasm, Stereotypical hand wringing, Tremor, Seizure |
OMIM:619561 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Distal muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Facia... |
OMIM:607641 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Sensorineural hearing impairment, Progressive cerebellar ataxia, Impaired vibration sensation in ... |
ORPHA:352641 |
Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Hypertonia, Frontal cortical atrophy, Delayed myelination, Cerebral hy... |
ORPHA:621 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Leukodystrophy, Dysdiadochokinesi... |
OMIM:614381 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Difficulty walking, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles of ... |
OMIM:608634 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
Galloway-Mowat Syndrome 5 |
|
Hearing impairment, Spasticity, Peripheral demyelination, Ataxia |
OMIM:617731 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking |
ORPHA:85292 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Corpus callosum atrophy, Parkinso... |
OMIM:221820 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral cortical atrophy, Brain atrophy, Abnormal pyramidal sign, Corpus callosum atrophy, Cereb... |
ORPHA:369939 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Cerebral atrophy, Ankle clonus, Babinski sign, Spastic tetraplegia, Spasticity... |
OMIM:616657 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Spasticity, Apraxia, Cauda... |
OMIM:221770 |
Developmental And Epileptic Encephalopathy 58 |
|
Motor stereotypy, Status epilepticus, Inability to walk, Delayed myelination, Spastic diplegia, S... |
OMIM:617830 |
Developmental And Epileptic Encephalopathy 78 |
|
Inability to walk, Cerebral palsy, Chorea, Spasticity, CNS hypomyelination |
OMIM:618557 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Impaired distal vibration sensation, Impa... |
OMIM:607080 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... |
OMIM:618387 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology, Hypertrophic nerve c... |
DECIPHER:29 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, EEG with spike-w... |
OMIM:618587 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Hypergonadotropic hypogonadism, Dysdiadochokinesis, Abnormal pyra... |
OMIM:617145 |
Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Rigidity, Gait disturbance, Seizure |
OMIM:118750 |
Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Sensorineural hearing impairment, Decreased nerve conduction velocity, Hand tremor, Impaired vibr... |
ORPHA:352675 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Optic atrophy, Tremor, Gait disturbance, Impaired pain sensation, Hearing im... |
ORPHA:99014 |
Epilepsy, Familial Temporal Lobe, 5 |
|
Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... |
OMIM:614417 |
Giant Axonal Neuropathy |
|
Babinski sign, Falls, Difficulty walking, Spasticity, Unsteady gait, Diffuse axonal swelling, Fac... |
ORPHA:643 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait, Hypo... |
OMIM:615768 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Distal muscle weakness, Tremor, Proximal muscle weakness, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Cerebral atrophy, Poor fine motor coordination, Intention tr... |
ORPHA:98762 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Amyotrophic lateral sclerosis, Ataxia, Hypertonia, Axial dystonia, Inabil... |
ORPHA:300605 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral atrophy, Decreased motor nerve conduction velocity, Cerebral hypomyelination, Cerebellar... |
OMIM:601170 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia |
OMIM:601238 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Ataxia, Spastic diplegia, Babinski sign, Lower limb spasticity, Optic disc pallor, CNS hypomyelin... |
OMIM:615281 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Parkinsonism, Abnormal lower motor neuron morphology, Paralysis, M... |
OMIM:105500 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Cerebellar a... |
OMIM:613477 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss |
OMIM:300857 |
Ravine Syndrome |
|
Ataxia, Spasticity, Abnormal auditory evoked potentials |
ORPHA:99852 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized myoclonic seizure, Rigidity, Gait disturbance, Tremor, ... |
OMIM:618090 |
Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia |
OMIM:615010 |
Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Upper limb spas... |
OMIM:618468 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Paroxysmal dyskinesia, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, E... |
OMIM:609446 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Optic atrophy, Tremor, Progressive spasticity, Gait disturbance... |
OMIM:210000 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Cerebral hypomyeli... |
ORPHA:280219 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Delayed myelination, Cerebral hypomyelination, Chorea, Opti... |
ORPHA:79097 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Tetraplegia, Babinski sign, Generalized hypotonia, C... |
OMIM:250100 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy, Leukodystrophy, Spasticity |
OMIM:616370 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Hypertonia, Focal motor seizure, Focal impaired awareness seizure, Generalize... |
ORPHA:306 |
Developmental And Epileptic Encephalopathy 34 |
|
Status epilepticus, Inability to walk, Focal hemiclonic seizure, Bilateral tonic-clonic seizure w... |
OMIM:616645 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Atonic seizure, Myoclonus, Tremor, Difficulty walking, Bilateral toni... |
OMIM:614018 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Hypertonia, Ataxia, EEG abnormality, Extrapyramidal dyskinesia, Myoclonus, He... |
ORPHA:71277 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Cerebral cortical atrophy, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling... |
ORPHA:306692 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Benign Adult Familial Myoclonic Epilepsy |
|
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Optic disc pallor, Lower limb hypertonia, CNS hypomyelination, Upper limb hype... |
OMIM:619328 |
Kaya-Barakat-Masson Syndrome |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Limb dystonia, Spastic tetraplegia, CNS hypomye... |
OMIM:619125 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... |
OMIM:614860 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Cerebral cortical atrophy, Upper motor neuron dysfunction, Clumsiness, Dysmetria, Intenti... |
ORPHA:447896 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor, Hearing impairment, Truncal ataxia, Ataxia |
OMIM:614504 |
Rolandic Epilepsy-Speech Dyspraxia Syndrome |
|
Continuous spike and waves during slow sleep, EEG with focal sharp waves, Bilateral tonic-clonic ... |
ORPHA:163721 |
Neuromyelitis Optica Spectrum Disorder |
|
Somatic sensory dysfunction, Neuronal loss in central nervous system, Paraplegia, Peripheral demy... |
ORPHA:71211 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Demyelinating peripheral neuropathy, Sensory ataxia, ... |
ORPHA:101081 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Decreased sensory nerve con... |
OMIM:270550 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal muscle weakness, Peripheral axonal neuropathy, Difficulty walking, Paralysis, Muscle weakness |
OMIM:613710 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Ataxia, Gliosis, Inability to walk, Cerebral hypomyelination, Titubation, Abnormal myelination, D... |
ORPHA:280210 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Dysmetria, Intention tremor, Myoclonus, ... |
OMIM:618356 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Tremor, Difficulty walking, Lower limb spasticity, Slurred speech, Axial hypo... |
ORPHA:206443 |
Infantile-Onset Spinocerebellar Ataxia |
|
Optic atrophy, Hearing impairment, Abnormality of the autonomic nervous system, Ataxia |
ORPHA:1186 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Distal muscle weakness, Distal lower limb muscle weakness, Paralysis, Paresis of extensor muscles... |
OMIM:158590 |
Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... |
OMIM:616140 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Impotence, Pseudobulbar paralysis, Autonomic erectile dysfunction, Orthostatic hypotensio... |
OMIM:169500 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Progressive cerebellar ataxia, Dysmetria, Spastic dysarthria, Gait ataxia, Spasticity, Dystonia, ... |
ORPHA:314603 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremor, Cerebellar atrophy, Abnormali... |
OMIM:615362 |
Autosomal Spastic Paraplegia Type 72 |
|
Spastic gait, Impaired vibration sensation at ankles, Rigidity, Postural tremor |
ORPHA:401849 |
Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Delayed myelination, Cerebral cortical atrophy,... |
OMIM:614959 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Leukodystrophy, Hypomyelinating, 24 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Seizure,... |
OMIM:619851 |
Myopathy, Spheroid Body |
|
Broad-based gait, Distal muscle weakness, Neck flexor weakness, Tremor, Waddling gait, Muscle wea... |
OMIM:182920 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... |
OMIM:254800 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Axonal degeneration,... |
ORPHA:88628 |
Developmental And Epileptic Encephalopathy 79 |
|
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination, Spasticity |
OMIM:618559 |
4H Leukodystrophy |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Cerebral hypomyelination, Optic atrophy, Tremor, Cerebella... |
ORPHA:289494 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Postural tremor, Abnormal ne... |
OMIM:619862 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... |
OMIM:615369 |
Parkinson Disease 17 |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Cerebral atrophy, Delayed CNS myelination |
OMIM:618875 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Peripheral axonal neuropathy, Spasticity, Waddling gait, Delayed CNS myelination, ... |
OMIM:619090 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerv... |
ORPHA:101077 |
Developmental And Epileptic Encephalopathy 91 |
|
Delayed myelination, Spasticity, Hypsarrhythmia, Seizure, Multifocal epileptiform discharges |
OMIM:617711 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Cerebral hypomyelination, Progressiv... |
ORPHA:438114 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Sensorineural hearing impairment, Chronic axonal neuropathy, Decreased number of large peripheral... |
OMIM:162400 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Tongue fasciculations, Falls, Axonal degeneration |
OMIM:618811 |
Dystonia 24 |
|
Torticollis, Oromandibular dystonia, Blepharospasm, Head tremor |
OMIM:615034 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Sensorineural hearing impairment, Ataxia, Babinski sign, Distal sensory impairment, Gait disturba... |
OMIM:617882 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... |
OMIM:607682 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Peripheral axonal neuropathy, Limb ataxia |
OMIM:615957 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Dysmetria, Spastic paraparesis, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Myoclonic seizure, Chorea, Epileptic spasm, Bilateral tonic-clonic s... |
OMIM:616139 |
Roussy-Lévy Syndrome |
|
Clumsiness, Limb ataxia, Decreased motor nerve conduction velocity, Babinski sign, Frequent falls... |
ORPHA:3115 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Sensory ataxia, Decreased sensory nerve conduction velocity, Impaired v... |
OMIM:609033 |
Schimke X-Linked Mental Retardation Syndrome |
|
Hearing impairment, Choreoathetosis, Spasticity |
OMIM:312840 |
Spinocerebellar Ataxia 25 |
|
Ataxia, Abolished vibration sense, Babinski sign, Decreased number of peripheral myelinated nerve... |
OMIM:608703 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B... |
OMIM:245570 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... |
OMIM:617836 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Demyelinating peripheral neuropathy, Progressive cerebellar ata... |
ORPHA:504476 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Involuntary movements, Limb dystonia, Torsion dystonia, Gener... |
ORPHA:99657 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Brain atrophy, Decreased nerve conduction velocity, Onion bulb formation, Distal sensory impairme... |
OMIM:615284 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Neonatal hypotonia, EEG ab... |
OMIM:617519 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Optic atrophy, Gait disturbance, Spasticity, Abnormal auditory evoked potentials, Progres... |
OMIM:125250 |
Spinal Muscular Atrophy, Type Iii |
|
Loss of ambulation, Hand tremor, Degeneration of anterior horn cells, Pelvic girdle muscle weakne... |
OMIM:253400 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... |
OMIM:617282 |
Abetalipoproteinemia |
|
Ataxia, Peripheral demyelination, CNS demyelination |
OMIM:200100 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Opti... |
ORPHA:216873 |
Retinal Dystrophy With Leukodystrophy |
|
Truncal titubation, Dysmetria, Falls, Waddling gait, CNS hypomyelination |
OMIM:618863 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... |
OMIM:616341 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tongue fasciculations, Gait disturbance, Tremor, Impaired distal vibration sen... |
ORPHA:276435 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Fasciculations, Decreased motor nerve conduction velocity |
OMIM:615575 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Developmental And Epileptic Encephalopathy 17 |
|
Delayed myelination, Generalized tonic seizure, Chorea, Athetosis, Hypsarrhythmia, Dystonia |
OMIM:615473 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sensory nerve conductio... |
OMIM:608323 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Sensorineural hearing impairment, Paraplegia, Spasticity, Gait disturbance |
ORPHA:2820 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
You-Hoover-Fong Syndrome |
|
Hearing impairment, Generalized hypotonia, Spasticity, Ataxia |
OMIM:616954 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Sensorineural hearing impairment, Optic atrophy, Ataxia, Hypotonia |
ORPHA:85297 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Degeneration of the lateral corti... |
OMIM:600363 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyelinating motor neurop... |
ORPHA:99939 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Delayed myelination, Exaggerated startle response, Spasticity, Cerebellar atrophy, CNS hypomyelin... |
OMIM:618367 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Progressive hearing impairment, Dystonia, Hypogonadism |
OMIM:616113 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... |
OMIM:604360 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
Developmental And Epileptic Encephalopathy 54 |
|
EEG abnormality, Delayed myelination, Seizure |
OMIM:617391 |
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal se... |
OMIM:608720 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination, Dystonia |
OMIM:618910 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Onion bulb formation, Steppage gait, Distal sensory impairment, Axonal loss |
OMIM:614455 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... |
OMIM:612674 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Perioral Myoclonia With Absences |
|
EEG with spike-wave complexes, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Gen... |
ORPHA:139426 |
Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials |
OMIM:618876 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Febrile seizure ... |
ORPHA:477673 |
Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral cortical atrophy, Inability to walk, Cerebral atrophy, Leukodystrophy, Babinski sign, Hy... |
OMIM:616420 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:614482 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Babinski sign, Head titubation, Optic atroph... |
OMIM:618688 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Clumsiness, Inabi... |
ORPHA:2590 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Abnormal autonomic nervous system physiology, EEG with focal epileptiform di... |
ORPHA:101046 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Infertility, Ataxia, Impaired vibration sensation at ankles, Reduced sperm moti... |
ORPHA:320391 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... |
OMIM:613855 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Gowers sign, Degeneration of anterior horn cells, Myoclonus, Facial palsy, Tongue fasciculations,... |
OMIM:159950 |
Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ataxia, Gliosis, Tremor, CNS demyelination, Peripheral demyelination |
OMIM:220111 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, Clumsiness, Focal impaired awareness seizure, EEG abnormality |
OMIM:610003 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Bilateral tonic-clonic seizure, Lower limb spasticity, Inability to walk, Short stature |
OMIM:619639 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dysmetria, Mild hearing impairment, Gait ataxia, Spasticity, Dystonia, Hearing impairment, Spasti... |
OMIM:611390 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Gliosis, Neurodegeneration, Optic atrophy, Spasticity, C... |
OMIM:616239 |
Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Demyelinating motor neuropathy, Limb ataxia, Head tremor, Demyelinating sensor... |
ORPHA:101085 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... |
ORPHA:1175 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Broad-based gait, Inability to walk, Myoclonus, Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Sensory axonal neuropathy, Abnormal middle ear reflexes, Distal sensory impairment, Tinnitus, Uns... |
OMIM:300614 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Parkinsonism, Myoclonic seizure, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Impaired vibration sensation in the lower limbs, Peripheral axonal ... |
ORPHA:320406 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... |
ORPHA:98764 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Delayed myelination, Difficulty walking, Spasticity, Seizure |
OMIM:617393 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Ataxia, Peripheral hypomyelination, Spasticity, Peripheral demyelination, Absent brainstem audito... |
OMIM:609136 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... |
ORPHA:79137 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... |
OMIM:610357 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy, Dystonia |
OMIM:616763 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... |
OMIM:604326 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... |
OMIM:615643 |
Combined Saposin Deficiency |
|
Neuronal loss in central nervous system, Myoclonus, Babinski sign, Hyperkinetic movements, Optic ... |
OMIM:611721 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... |
ORPHA:137898 |
Isolated Focal Cortical Dysplasia |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seiz... |
ORPHA:65683 |
Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Hypertonia, Dysmetria, Intention tremor, Leukodystrophy, Abnormal pyramidal sig... |
OMIM:617964 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Poor fine motor coordination, EEG with ... |
ORPHA:36387 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Sensorineural hearing impairment, Ataxia, Athetosis, Spasticity, Abnormal CNS myelination, Dystonia |
OMIM:612951 |
Parkinson Disease 19A, Juvenile-Onset |
|
Loss of ambulation, Bradykinesia, Pill-rolling tremor, Limb hypertonia, Abnormal pyramidal sign, ... |
OMIM:615528 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Focal motor seizure, Akinesia, Clumsiness, Bradykinesia, Freezing of gait, Resting tremor, Rigidi... |
OMIM:619911 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... |
OMIM:603516 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunction, P... |
ORPHA:101082 |
Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, EEG abnormality, EEG with polyspi... |
OMIM:617665 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Developmental And Epileptic Encephalopathy 33 |
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Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Hyps... |
OMIM:616409 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
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Decreased motor nerve conduction velocity |
OMIM:614751 |
Autosomal Recessive Spastic Paraplegia Type 21 |
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Abnormal pyramidal sign, Spasticity, Apraxia, Abnormality of peripheral nerve conduction, Abnorma... |
ORPHA:101001 |
Spinocerebellar Ataxia 44 |
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Ataxia, Dysmetria, Dysdiadochokinesis, Tinnitus, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
Juvenile Primary Lateral Sclerosis |
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Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
Atypical Juvenile Parkinsonism |
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Akinesia, Inability to walk, Bradykinesia, Brain atrophy, Resting tremor, Myoclonus, Abnormal pyr... |
ORPHA:391411 |
Spastic Paraplegia 46, Autosomal Recessive |
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Infertility, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper limb d... |
OMIM:614409 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
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Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
Juvenile Absence Epilepsy |
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EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... |
ORPHA:1941 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Waddling gait, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Dystonia 28, Childhood-Onset |
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Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Developmental And Epileptic Encephalopathy 4 |
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Status epilepticus, Generalized myoclonic seizure, Generalized tonic seizure, Cerebral hypomyelin... |
OMIM:612164 |
Hsd10 Disease |
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Ataxia, Infantile muscular hypotonia, Spastic paraparesis, Myoclonus, Rigidity, Optic atrophy, Tr... |
ORPHA:391417 |
Dystonia 2, Torsion, Autosomal Recessive |
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Torticollis, Tremor, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Spastic Paraplegia 17, Autosomal Dominant |
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Decreased motor nerve conduction velocity, Babinski sign, Spastic paraplegia, Spastic gait, Postu... |
OMIM:270685 |
Chorea, Benign Familial |
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Chorea |
OMIM:215450 |
Dravet Syndrome |
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Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Pelizaeus-Merzbacher Disease In Female Carriers |
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Inability to walk, Spastic paraparesis, Hand apraxia, Babinski sign, Gait disturbance, Difficulty... |
ORPHA:280229 |
Developmental And Epileptic Encephalopathy 43 |
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Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
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Tremor, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:616668 |
Autosomal Dominant Spastic Paraplegia Type 19 |
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Female sexual dysfunction, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski... |
ORPHA:100999 |
Intellectual Developmental Disorder, Autosomal Recessive 60 |
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Delayed CNS myelination |
OMIM:617432 |
Diaminopentanuria |
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Ataxia, Neurodegeneration, Spasticity |
OMIM:222350 |
Autosomal Dominant Spastic Paraplegia Type 17 |
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Spastic gait, Postural tremor, Babinski sign, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
Spastic Paraplegia 44, Autosomal Recessive |
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Sensorineural hearing impairment, Upper limb spasticity, Dysmetria, Intention tremor, Babinski si... |
OMIM:613206 |
Developmental And Epileptic Encephalopathy 6B |
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Motor stereotypy, Ataxia, Focal hemiclonic seizure, EEG with spike-wave complexes (>3.5 Hz), Toni... |
OMIM:619317 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
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Decreased motor nerve conduction velocity |
OMIM:605589 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Sensorineural hearing impairment, Ataxia, Difficulty walking, Delayed peripheral myelination, Pro... |
ORPHA:464282 |
Autosomal Dominant Spastic Paraplegia Type 3 |
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Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... |
ORPHA:100984 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
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Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... |
OMIM:612319 |
Lennox-Gastaut Syndrome |
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Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... |
ORPHA:2382 |
Developmental And Epileptic Encephalopathy 103 |
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Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Opisthotonus,... |
OMIM:619913 |
Autosomal Recessive Spastic Paraplegia Type 60 |
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Impaired vibration sensation in the lower limbs, Limb hypertonia, Spastic paraplegia, Lower limb ... |
ORPHA:401800 |
Gabriele-De Vries Syndrome |
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Abnormal pinna morphology, Delayed myelination, Tremor, Waddling gait, Posteriorly rotated ears, ... |
OMIM:617557 |
Striatal Degeneration, Autosomal Dominant 1 |
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Bradykinesia, Dysdiadochokinesis, Rigidity, Gait disturbance, Degeneration of the striatum |
OMIM:609161 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
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Leg dystonia, Parkinsonism with favorable response to dopaminergic medication, Blepharospasm, Bra... |
OMIM:606324 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Hypotonia, Hearing imp... |
ORPHA:139485 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
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Chronic axonal neuropathy, Fasciculations, Decreased motor nerve conduction velocity |
OMIM:606595 |
Basal Ganglia Calcification, Idiopathic, 1 |
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Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Ataxia, Impotence, Orthostatic hypotension, Babinski sign, Autonomic bladder dysfunction, Tremor,... |
ORPHA:99027 |
Spinocerebellar Ataxia Type 28 |
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Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
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Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity |
OMIM:618912 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... |
ORPHA:284324 |
Intellectual Developmental Disorder, X-Linked 104 |
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Abnormal pinna morphology, Ataxia, Optic atrophy, Tremor, Spasticity, Delayed CNS myelination |
OMIM:300983 |
Landau-Kleffner Syndrome |
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EEG with frontal focal spikes, Atypical absence seizure, Focal motor seizure, Bilateral tonic-clo... |
ORPHA:98818 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
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Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
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Hypertonia, Inability to walk, Spasticity, Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
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Broad-based gait, Inability to walk, Spasticity, Delayed CNS myelination |
OMIM:619884 |
Developmental And Epileptic Encephalopathy 92 |
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Ataxia, Inability to walk, EEG abnormality, Myoclonus, Difficulty walking, Spasticity, Dystonia |
OMIM:617829 |
Charcot-Marie-Tooth Disease Type 4D |
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