| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait, Cerebellar atrophy |
OMIM:616410 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Impaired distal vibra... |
OMIM:619742 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Peripheral demyelination, Polyneuritis |
OMIM:162600 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Abnormal cerebellum morphology, Abnormal pyramidal sign, Cerebral hypomyelination |
ORPHA:85163 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS hypomyelination |
OMIM:616494 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Spinocerebellar Ataxia 23 |
|
Neuronal loss in central nervous system, Limb ataxia, Dysmetria, Impaired vibration sensation in ... |
OMIM:610245 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:615945 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
| Null Syndrome |
|
Abnormal cerebellum morphology, Ataxia, Demyelinating peripheral neuropathy, Inability to walk, P... |
ORPHA:280234 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Leukodystrophy, Peripheral demyelination |
DECIPHER:59 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
| Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Limb ataxia, Leukodystrophy, Abnormal pyramidal sign, Truncal ataxia, Head titubatio... |
OMIM:617560 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Peripheral demyelination, CNS demyelination |
OMIM:165200 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrap... |
OMIM:617672 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gliosis, Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory im... |
OMIM:604484 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy |
OMIM:616291 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... |
OMIM:611252 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Ataxia, CNS hypomyelination |
ORPHA:88637 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased sensory nerve conduction velocity, Axonal degeneration, Onion bulb formation, Decreased... |
OMIM:214400 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Cerebellar atrophy,... |
OMIM:616948 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Cerebral atrophy, Myoclonus, Increased neuronal autofluorescent lipopigment, Cerebellar a... |
OMIM:600143 |
| Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Cavitating leukodystrophy, Ataxia |
OMIM:619061 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia, Cerebellar atrophy |
OMIM:616187 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Hand tremor, Dysmetria, Axonal degeneration, Onion bulb formation, Decreased motor n... |
OMIM:302800 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Babinski sign, Optic atrophy, Cogwheel rigidity, Spasticity, Spastic tetraparesis, Hypert... |
ORPHA:225154 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Tremor, Choreoathetosis, Spasticity, ... |
OMIM:612438 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Posterior Column Ataxia |
|
Impaired proprioception, Impaired vibratory sensation, Ataxia |
OMIM:176250 |
| Pelizaeus-Merzbacher Disease |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Sudanophilic leukodystrophy, Optic atrophy,... |
OMIM:312080 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:617917 |
| Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Cerebral atrophy, Leukodystrophy, Abnormal pyramidal sign, Head titubation, Progressive s... |
ORPHA:527497 |
| Microlissencephaly |
|
Cerebral dysmyelination, Periventricular heterotopia, Cerebral cortical atrophy, Hypertonia, Poly... |
ORPHA:1083 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... |
OMIM:616053 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination, Upper limb spas... |
OMIM:618468 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Leukodystrophy, Abnormal pyrami... |
OMIM:614561 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Hypertonia, Ataxia, Failure to thrive, Delayed myelination, Leukodystrophy, Generalized hypotonia... |
OMIM:616881 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:611694 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebral atrophy, Abnormal pyramidal sign, Cerebral hypomyelination, Cerebellar atrophy, CNS hypo... |
OMIM:300475 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Pontocerebellar atrophy, Dysd... |
ORPHA:423275 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Decreased nerve conduction velocity, Demyelinating motor neuropathy, Decr... |
ORPHA:206594 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Cerebellar hypoplasia, Truncal ataxia, Tremor, Spastici... |
OMIM:615768 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Diffuse cerebral atrophy, Tremo... |
OMIM:615362 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Decreased nerve conduction velocity, Hypoesthesia, Segmental peripheral demyelination/rem... |
OMIM:601098 |
| Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Decreased number of large peripheral myelinated nerve fibe... |
ORPHA:101111 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypoplasia, Trun... |
ORPHA:94122 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Failure to thrive, Ataxia, Loss of ambulation, Cerebral atrophy, Intention tremor, Leukodystrophy... |
OMIM:617951 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Decreased number of large peripheral myelinated nerve fibers, Loss of ambulation, Limb at... |
OMIM:208920 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
| Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy |
OMIM:182815 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Ataxia, Inability to walk, Chorea, Difficulty walking, Lower limb ... |
ORPHA:300605 |
| Gordon Holmes Syndrome |
|
Ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:212840 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Spastic paraparesis, Dysmetria, Axonal degeneration, Dysd... |
OMIM:615157 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Developmental And Epileptic Encephalopathy 5 |
|
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Cerebellar a... |
OMIM:613477 |
| Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Cerebellar atrophy, Progressive gait ataxia |
OMIM:607458 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebral cortical atrophy, Loss of ambulation, Dysmetria, Leukodystrophy, Babinski sign, ... |
OMIM:607694 |
| Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Action tremor, Cerebral atrophy, Poor fine motor coordina... |
ORPHA:98762 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Cerebellar atrophy, Pr... |
ORPHA:101112 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Chronic axonal neuropathy, Loss of ambulation, Impaired vibratory sensation, Decreased number of ... |
ORPHA:101097 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Cerebral atrophy, Spastic paraparesis, Demyelinating motor neuropathy, Intention tremor, ... |
OMIM:608804 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia |
OMIM:615889 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Hypertonia, Gliosis, Delayed myelination, Cerebral atrophy, Small for gestational age, Spasticity... |
OMIM:615095 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Hypertonia, Cerebral atrophy, Polymicrogyria, Lissencephaly, Spastic tetraplegia, Cerebellar atro... |
OMIM:618730 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Atrophy/Degeneration affecting t... |
OMIM:616230 |
| Hereditary Methemoglobinemia |
|
Hypertonia, Temporal cortical atrophy, Delayed myelination, Frontal cortical atrophy, Small for g... |
ORPHA:621 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Cerebral atrophy, Chorea, Spastic tetraplegia, Cerebellar atrophy, Clonus |
OMIM:613811 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation |
OMIM:618279 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebral cortical atrophy, Brain atrophy, Abnormal pyramidal sign, Corpus callosum atrophy, Cereb... |
ORPHA:369939 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Ataxia, Clumsiness, CNS hypomyelination, Cerebral cortical atrophy, Dysmetria, Impaired vibration... |
ORPHA:447896 |
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Sensory ataxia, S... |
OMIM:145900 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
| Developmental And Epileptic Encephalopathy 93 |
|
Inability to walk, Cerebral atrophy, Gait disturbance, Cerebellar atrophy, Spastic tetraparesis, ... |
OMIM:618012 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Segmental peripheral demy... |
OMIM:606483 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Cerebellar atrophy, Unsteady gait |
ORPHA:284271 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
| Neurodegeneration With Brain Iron Accumulation |
|
Rigidity, Chorea, Spasticity, Cerebellar atrophy, Abnormality of extrapyramidal motor function |
ORPHA:385 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Cerebral atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Spasticity, Cerebellar ... |
OMIM:618973 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Cerebellar atrophy |
OMIM:614706 |
| Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Abnormal myelination, Progressive spastic paraplegia, Spastic gait, L... |
ORPHA:401840 |
| Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:614482 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Cerebral atrophy, Cerebellar atrophy, Upper limb spasticity, Lower limb spast... |
OMIM:613925 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gliosis, Cerebral atrophy, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuro... |
OMIM:221770 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral hypomyelination, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:601170 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Difficulty walking, Dystonia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Abnormal m... |
ORPHA:401820 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Leukodystrophy, Dysdiadochokinesi... |
OMIM:614381 |
| Kaya-Barakat-Masson Syndrome |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Spastic tetraplegia, CNS hypomyelination |
OMIM:619125 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:611726 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
| Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Ataxia, Cerebellar atrophy |
OMIM:613402 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Gait disturbance, Tremor, Progressive spasticity, Cerebellar at... |
OMIM:210000 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Motor stereotypy, Neuronal loss in central nervous system, Cerebral cortical atrophy, Myoclonus, ... |
OMIM:600795 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
| Giant Axonal Neuropathy |
|
Abnormal cerebellum morphology, Babinski sign, Generalized hypotonia, Falls, Distal sensory impai... |
ORPHA:643 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Myoclonus, Dysdiadochokinesis, Increased neuronal autofluorescent ... |
OMIM:256731 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Cerebral cortical atrophy, Progressive cerebellar ataxia, Dysmetria, Dysdiadochoki... |
OMIM:604326 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, Loss of ambulation, Truncal titubation, Intention tremor, Leukody... |
OMIM:610532 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Increased neuronal autofluorescent lipopigment, Clumsiness, Cerebral atrophy, Cerebellar atrophy |
OMIM:610003 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic diplegia, Leukodystrophy, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Gait dis... |
OMIM:616859 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Abnormal cerebellum morphology, Ataxia, Leukodystrophy, Babinski sign, Difficulty walking, Spasti... |
OMIM:618242 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... |
OMIM:616127 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Spastic paraplegia, Ataxia, CNS hypomyelination |
OMIM:619688 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Generalized hypotonia, Babinski sign, Gait ataxia, Hypotonia... |
OMIM:249900 |
| Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Tetraplegia, Cerebellar atrophy |
OMIM:616267 |
| Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Generalized hypotonia, Unsteady gait, Dysesthesia, Acute demyelinating poly... |
ORPHA:98916 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy |
OMIM:618090 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration, Distal sensory impai... |
OMIM:607731 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
| Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Peripheral axonal neuropathy, Distal sensory impairment, Spa... |
OMIM:615035 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Delayed myelination, Exaggerated startle response, Spasticity, Cerebellar atrophy, CNS hypomyelin... |
OMIM:618367 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... |
OMIM:608340 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration, Distal ... |
OMIM:607677 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
| Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Delayed myelination, Cerebral hypomyelination, Chorea, Opti... |
ORPHA:79097 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:618369 |
| Krabbe Disease |
|
Hypertonia, Hydrocephalus, Failure to thrive, Decreased nerve conduction velocity, Decerebrate ri... |
OMIM:245200 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
| Intellectual Developmental Disorder, Autosomal Recessive 60 |
|
Delayed CNS myelination |
OMIM:617432 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Babinski sign, Spasticity, Cerebellar atrophy, Delayed CNS myelination, Waddlin... |
OMIM:619090 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Choreoathetosis, Abnormality of extrapyramidal motor function, Cerebellar atrophy |
OMIM:301020 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... |
OMIM:224050 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Leukodystrophy, Abnormal pyramidal sign, Peripheral axonal neuropathy, Dystonia |
OMIM:619196 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Progressive cerebellar ataxia, Hypermyelinated retinal nerve fibers, Babinski sign, Diffi... |
ORPHA:98 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Ataxia, Spastic diplegia, Babinski sign, Spina bifida occulta, Optic disc pallor, CNS hypomyelina... |
OMIM:615281 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Demyelinating peripheral neuropathy, Cerebral atrophy, Sensory ataxia, Babinski sign, Atrophy/Deg... |
ORPHA:445062 |
| Autosomal Recessive Spastic Paraplegia Type 56 |
|
Tip-toe gait, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia, Unsteady gait, Spa... |
ORPHA:320411 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Inability to walk, Cerebellar vermis atrophy, Corpus callosum atrophy, Cerebellar atrophy... |
OMIM:619389 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Inability to walk, Hypoplasia of the pons, Tetraparesis, Global brain ... |
OMIM:618276 |
| Developmental And Epileptic Encephalopathy 78 |
|
Neonatal hypotonia, Inability to walk, Cerebral palsy, Generalized hypotonia, Chorea, Spasticity,... |
OMIM:618557 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Simplified gyral pattern, CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy |
OMIM:615760 |
| Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Ataxia, Gliosis, Inability to walk, Cerebellar hypoplasia, Cerebral hypomyelin... |
ORPHA:280210 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:615386 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... |
OMIM:117360 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Intention tremor, Tremor by anatomical site, Abnormal pyr... |
ORPHA:101110 |
| Inherited Creutzfeldt-Jakob Disease |
|
Senile plaques, Progressive extrapyramidal muscular rigidity, Clumsiness, Progressive cerebellar ... |
ORPHA:282166 |
| Spinocerebellar Ataxia 49 |
|
Loss of ambulation, Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Cerebellar atrophy, Uns... |
OMIM:619806 |
| 4H Leukodystrophy |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Cerebral hypomyelination, Optic atrophy, Tremor, Cerebella... |
ORPHA:289494 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
| Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Babinski sign, Spasticity, Cerebe... |
OMIM:614255 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Gliosis, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal p... |
ORPHA:204 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
| Dystonia 30 |
|
Torticollis, Leg dystonia, Oromandibular dystonia, Loss of ambulation, Writer's cramp, Diffuse ce... |
OMIM:619291 |
| Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum |
|
Tip-toe gait, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia, Unsteady gait, Dys... |
OMIM:615030 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
| 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 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... |
OMIM:606183 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Leukodystrophy, Spasticity, Abnormality of extrapyramidal mo... |
OMIM:616140 |
| Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremo... |
ORPHA:98763 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
| Dystonia 23 |
|
Torticollis, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance, Cerebellar atrophy |
OMIM:614860 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity |
OMIM:162500 |
| Dystonia 4, Torsion, Autosomal Dominant |
|
Torticollis, Slender build, Hemidystonia, Gait ataxia, Limb dystonia, Torsion dystonia, Generaliz... |
OMIM:128101 |
| Huntington Disease |
|
Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... |
OMIM:143100 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ba... |
OMIM:617225 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:614229 |
| Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Limb ataxia, Dysmetria, Int... |
ORPHA:1175 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Neurodegeneration, Cerebral atrophy, Cerebellar atrophy |
OMIM:610951 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Atrophy of the spinal cord, Gait disturbance, Progressive spastic parapleg... |
OMIM:612020 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... |
OMIM:605361 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Distal sensory impairment, Cerebellar atrophy, Steppage gait |
OMIM:607250 |
| Adult Krabbe Disease |
|
Hemiplegia, Broad-based gait, Abnormal pons morphology, Ataxia, Clumsiness, Acroparesthesia, Hoff... |
ORPHA:206448 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysm... |
OMIM:618404 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Aminoacylase 1 Deficiency |
|
Cerebral atrophy, Cerebellar atrophy, Delayed CNS myelination |
OMIM:609924 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
| Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Hypertonia, Clumsiness, Tip-toe gait, Tetraparesis, Decreased number of peripheral myelinated ner... |
ORPHA:2386 |
| Progressive Non-Fluent Aphasia |
|
Temporal cortical atrophy, Senile plaques, Parkinsonism, Astrocytosis, Abnormal lower motor neuro... |
ORPHA:100070 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Parkinsonism, Caudate atrophy, Chorea, Gait disturbance, Involuntary m... |
ORPHA:98934 |
| 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 |
| Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... |
ORPHA:98756 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Neuronal loss in central nervous system, Ataxia, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
| Leukoencephalopathy With Vanishing White Matter |
|
Gliosis, Generalized hypotonia, Cerebral hypomyelination, Optic atrophy, Gait disturbance, Spasti... |
OMIM:603896 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Dysmetria, Gait ataxia, Spasticity, Cerebellar atrophy, Spastic ataxia |
OMIM:611390 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Head tremor, Cereb... |
ORPHA:280219 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Cerebral atrophy, Delayed CNS myelination, Ankle clonus, Babinski sign, Spasti... |
OMIM:616657 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Dysdiadochokinesis, Cerebellar hypoplasia, Truncal ataxia, Tremor, Aplasia of the infe... |
OMIM:610185 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decreased motor nerve ... |
OMIM:604168 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dysmyelinating leukodystrophy, Ataxia, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... |
OMIM:612319 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Somatic sensory dysfunction, Difficulty walking, CNS hypomyelination, Lower limb spasticity |
ORPHA:320401 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Ataxia, Gliosis, Generalized hypotonia, Tremor, Hypotonia, CNS demyelination, ... |
OMIM:220111 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Pseudobulbar paralysis, Dysmetria, Intention tremor, Cerebral hypomyelination, Progressiv... |
ORPHA:438114 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Neuronal loss in central nervous system, Gliosis, Bradykinesia, Rigidity, Parkinsonism, Corpus ca... |
OMIM:221820 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Ataxia, Inability to walk, Delayed myelination, Cerebral atrophy, Generalized h... |
OMIM:616756 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Distal sensory impairment... |
OMIM:311070 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:610021 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy, Leukodystrophy |
OMIM:616370 |
| Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Parti... |
OMIM:604213 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Generalized hypotonia, Peripheral axona... |
OMIM:615490 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
| Developmental And Epileptic Encephalopathy 37 |
|
Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel... |
OMIM:616981 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Impaired temperatur... |
OMIM:619686 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cerebral cortical atrophy, Hand tremor, Aplasia/Hypoplasia of the cerebellar vermis, Spastic dysa... |
ORPHA:401830 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... |
OMIM:619028 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Severe muscular hypotonia, Onion bulb formati... |
OMIM:618184 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination, Generalized hypotonia, Dystonia, Small for gestational age |
OMIM:618910 |
| Autosomal Dominant Focal Dystonia, Dyt25 Type |
|
Torticollis, Lingual dystonia, Axial dystonia, Laryngeal dystonia, Craniofacial dystonia, Limb dy... |
ORPHA:329466 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Delayed myelination, Cerebral atrophy, Generalized hypotonia, Chorea, ... |
OMIM:617804 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Gliosis, Bradykinesia, Neuronal loss in central nervous system, Limb at... |
OMIM:607136 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic tetraparesis, Progressive spastic paraparesis, Spastic ataxia, Cerebellar atrophy |
ORPHA:496756 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Broad-based gait, Hypertonia, Failure to thrive, Dysmetria, Intention tremor, Leukodystrophy, Del... |
OMIM:617964 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Abnormal cerebellum morphology, Ataxia, Pseudobulbar paralysis, Gliosis, Leukodystrophy, Babinski... |
OMIM:169500 |
| Developmental And Epileptic Encephalopathy 79 |
|
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination, Spasticity |
OMIM:618559 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Slurred speech, Cerebellar atrophy |
OMIM:619323 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Chorea, Gait ataxia |
OMIM:618501 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Axonal degeneration/regeneration, Distal sensory impairment, Peripheral demyelination, Steppage gait |
OMIM:607736 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Atrophy of the spinal cord, Spastic paraplegia, Gait ataxia, Cerebellar atrophy, L... |
ORPHA:139480 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Steppage gait, Distal sensory impairment, Axonal degeneration |
OMIM:616155 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
| Lissencephaly 8 |
|
Appendicular spasticity, Cerebellar hypoplasia, Polymicrogyria, Cerebral hypomyelination, Type II... |
OMIM:617255 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Ataxia, Cerebral atrophy, Dysmetria, Corpus callosum atrophy, Choreoathetosis, Spasticity, Cerebe... |
OMIM:618088 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Diffuse cerebellar atrophy, Abnormality of extrapyramidal motor function, Myoclonus, ... |
ORPHA:352596 |
| Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Delayed CNS myelination |
OMIM:618875 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Atrophy/Degeneration affecting the brainstem, Limb myoclo... |
OMIM:619862 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
| Developmental And Epileptic Encephalopathy 29 |
|
Failure to thrive, Blepharospasm, Cerebral atrophy, Chorea, Spasticity, Limb dystonia, CNS hypomy... |
OMIM:616339 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Dista... |
OMIM:605588 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Failure to thrive, Neonatal hypotonia, Cerebral atrophy, Leukodystrophy, Choreoathetosis, Spastic... |
OMIM:616034 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Difficulty walking, Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia |
ORPHA:468661 |
| Progressive Multifocal Leukoencephalopathy |
|
Hemiplegia/hemiparesis, Dysmetria, Parkinsonism, Weakness due to upper motor neuron dysfunction, ... |
ORPHA:217260 |
| Spinocerebellar Ataxia 13 |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Morphological abnormality of... |
OMIM:605259 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Neuronal loss in central nervous system, Gliosis, Generalized hypotonia, Neurodegeneration, Optic... |
OMIM:616239 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Decreased num... |
OMIM:270550 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Failure to thrive, Cerebral cortical atrophy, Inability to walk, Cerebral atrophy, Leukodystrophy... |
OMIM:616420 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, Cerebellar atrophy |
OMIM:619303 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Ataxia, Cerebellar vermis atrophy, Pain insensitivity, Impaired vibration sensation in the lower ... |
ORPHA:94124 |
| Leukodystrophy, Hypomyelinating, 14 |
|
Spasticity, Cerebral atrophy, Cerebellar atrophy |
OMIM:617899 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebral atrophy, Spasticity, Cerebellar atrophy, Simplified gyral pattern, CNS hypomyelination |
OMIM:619286 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Babinski... |
OMIM:602433 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Cerebral atrophy, Rigidity, Parkinsonism, Gait disturbance, Tremor, Substantia nigr... |
OMIM:600116 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
| Developmental And Epileptic Encephalopathy 16 |
|
Delayed myelination, Severe muscular hypotonia, Cerebral atrophy, Abnormality of extrapyramidal m... |
OMIM:615338 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Facial diplegia, Cachexia, Babinski sign, Spasticity, Cerebellar atrophy, CNS hypomyelination, Dy... |
OMIM:618186 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Cerebellar hypopla... |
ORPHA:314978 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Cerebral atrophy, Dysmetria, Tremor, Titubation, Cerebellar atrophy, Unsteady gait |
OMIM:619405 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Gliosis, Limb ataxia, Dysmetria, Generalized hypotonia, Cerebellar hypoplasia, Tremor, Ga... |
OMIM:213200 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dilated fourth ventricle, Diffuse cerebral atrophy,... |
ORPHA:1170 |
| Developmental And Epileptic Encephalopathy 44 |
|
Failure to thrive, Delayed myelination, Cerebral atrophy, Generalized hypotonia, Athetosis, Spast... |
OMIM:617132 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Ataxia, Cerebral degeneration |
OMIM:260970 |
| Dystonia, Early-Onset, And/Or Spastic Paraplegia |
|
Spastic paraplegia, Dystonia, Difficulty walking, Laryngeal dystonia |
OMIM:619681 |
| Dystonia 33 |
|
Axial dystonia, Babinski sign, Spasticity, Limb dystonia, Dystonia, Axial hypotonia |
OMIM:619687 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... |
OMIM:133190 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination, Somatic sensory dy... |
ORPHA:71211 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis, Athetosis, Paralysis, Dystonia, Axonal loss |
OMIM:300857 |
| Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Gait ataxia, Cere... |
OMIM:609307 |
| 46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Babinski sign, Spastic paraplegia, Tremor, Diffuse cerebral atrophy, Gait disturbance |
OMIM:300660 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Parkinsonism, Neurodegeneration, Rigidity, T... |
OMIM:300894 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Abnormal myelination, Inability to walk, Cerebellar atrophy |
OMIM:618324 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Ataxia, Cerebral cortical atrophy, Difficulty walking, Cerebellar atrophy |
OMIM:619425 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Tip-toe gait, Impaired vibration sensation in the lower limbs,... |
OMIM:604360 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Poor gross motor coordination, Decreased number of large peripheral my... |
ORPHA:99948 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spasticity, Cerebellar atrophy, Spastic tetraplegia |
OMIM:617207 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... |
OMIM:617282 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
| Galloway-Mowat Syndrome 5 |
|
Brain atrophy, Ataxia, Spasticity, Peripheral demyelination |
OMIM:617731 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus |
OMIM:125370 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Hoffmann sign, Babinski sign, Abnormal pyramidal si... |
OMIM:618438 |
| Adenylosuccinase Deficiency |
|
Inability to walk, Cerebral atrophy, Opisthotonus, Myoclonus, Generalized hypotonia, Cerebral hyp... |
OMIM:103050 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Inability to walk, Upper limb hypertonia, Optic disc pallor, Lower limb hypertonia, CNS hypomyeli... |
OMIM:619328 |
| Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Spastic ataxia, Dysmetria, Cerebellar h... |
ORPHA:314603 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Hypertonia, Failure to thrive, Inability to walk, Delayed CNS myelination, Spasticity, Hypotonia,... |
OMIM:616577 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy, Generalized hypotonia, Dystonia |
OMIM:616763 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Abnormal cerebellum morphology, Dysmyelinating leukodystrophy, Progressive cerebellar... |
ORPHA:137898 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| L-2-Hydroxyglutaric Aciduria |
|
Severe demyelination of the white matter, Abnormality of extrapyramidal motor function, Abnormal ... |
OMIM:236792 |
| Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Generalized hypotonia, Babinski sign, Chorea, Optic ... |
OMIM:250100 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Motor stereotypy, Frontotemporal cerebral atrophy, Astrocytosis, Gait disturbance, Fasciculations... |
ORPHA:275864 |
| Developmental And Epileptic Encephalopathy 17 |
|
Delayed myelination, Cerebral atrophy, Chorea, Athetosis, Dystonia |
OMIM:615473 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 2 |
|
Difficulty walking, Rigidity, Dystonia, Sensory ataxia |
OMIM:619661 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, ... |
OMIM:159550 |
| Striatonigral Degeneration, Childhood-Onset |
|
Hypertonia, Loss of ambulation, Craniofacial dystonia, Unsteady gait, Dystonia |
OMIM:617054 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Ataxia, Brain atrophy, Cerebral atrophy, Delayed CNS myelination, Tetraparesis, Optic disc pallor... |
OMIM:619260 |
| Spinocerebellar Ataxia 28 |
|
Limb ataxia, Babinski sign, Parkinsonism, Somatic sensory dysfunction, Gait ataxia, Spasticity, C... |
OMIM:610246 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Ataxia, Cerebellar atrophy |
OMIM:618879 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Morphological abnormality of the pyramida... |
OMIM:608768 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the ventral pons, Demyelinating peripheral neuropathy, Cerebral cortical at... |
OMIM:607596 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Neurodegenerat... |
OMIM:615643 |
| Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the b... |
OMIM:619971 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Cerebral cortical atrophy, Clumsiness, Cerebral atrophy, Brain atrophy, Dysmetria, Poor f... |
ORPHA:79263 |
| Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Motor stereotypy, Failure to thrive, Delayed myelination, Cerebral atrophy, Generalized hypotonia... |
OMIM:617393 |
| Aicardi-Goutieres Syndrome 6 |
|
Loss of ambulation, Leukodystrophy, Rigidity, Tremor, Dystonia |
OMIM:615010 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Inability to walk, Recurrent hand flapping, Opisthotonus, Delayed CNS m... |
OMIM:619580 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Cerebral cortical atrophy, Inability to walk, Dysmetria, Leukodystrophy, Spasticity, Cere... |
OMIM:619576 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar atrophy |
OMIM:618093 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Dysmetria, Spastic paraparesis, Myoclonus, Dysdiadoc... |
ORPHA:313772 |
| Retinal Dystrophy With Leukodystrophy |
|
Truncal titubation, Dysmetria, Falls, Waddling gait, CNS hypomyelination |
OMIM:618863 |
| Spinocerebellar Ataxia 25 |
|
Ataxia, Abolished vibration sense, Babinski sign, Decreased number of peripheral myelinated nerve... |
OMIM:608703 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of p... |
ORPHA:431329 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Brain atrophy, Cerebellar vermis hypoplasia, Simplified gyral pattern, Pachygyria, CNS hypomyelin... |
OMIM:615966 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Axonal degeneration, Generalized hypotonia, Optic atrophy, Global brain atrophy... |
OMIM:616811 |
| Developmental And Epileptic Encephalopathy 14 |
|
Neuronal loss in central nervous system, Gliosis, Delayed myelination, Cerebral cortical atrophy,... |
OMIM:614959 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebral atrophy, Upper limb spasticity, Impaired vibration sensation in the lower limbs, Upper l... |
OMIM:614409 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... |
OMIM:607259 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Neuronal loss in central nervous system, Cerebral atrophy, Myoclonus, Abnormal pyramidal ... |
OMIM:615924 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Falls, Clonus, Tongue fasciculations |
OMIM:618811 |
| Peroxisome Biogenesis Disorder 8B |
|
Failure to thrive, Neonatal hypotonia, Cerebellar vermis atrophy, Ataxia, Spastic paraparesis, Dy... |
OMIM:614877 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Ataxia, Cataplexy, Gliosis, CNS hypomyelination, Neuronal loss in central nervous system, Inabili... |
OMIM:617193 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebral cortical atrophy, Dysmetria, Ankle clonus, Pontocerebellar atrophy, Babinski sign, Dysdi... |
ORPHA:171629 |
| Episodic Ataxia Type 6 |
|
Hemiplegia, Ataxia, Slurred speech, Cerebellar atrophy |
ORPHA:209967 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cerebellar vermis atrophy, Cerebral atrophy, Spasticity, Delayed CNS myelination, Spastic tetrapa... |
OMIM:616154 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Leukodystrophy, Inability to walk, Cerebral atrophy, Cerebellar atrophy |
OMIM:618006 |
| Spinocerebellar Ataxia 32 |
|
Ataxia, Cerebellar atrophy |
OMIM:613909 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Broad-based gait, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Dysmetria, Dysdiadoc... |
ORPHA:363429 |
| Developmental And Epileptic Encephalopathy 38 |
