| Ataxia, Sensory, 1, Autosomal Dominant |
|
Positive Romberg sign, Sensory ataxia, Gait instability, worse in the dark, Babinski sign |
OMIM:608984 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Sensory ataxia, Babinski sign, Ataxia |
OMIM:256860 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Optic atrophy, Babinski sign |
OMIM:311050 |
| X-Linked Spastic Paraplegia Type 34 |
|
Ankle clonus, Lower limb spasticity, Impaired vibration sensation in the lower limbs, Babinski si... |
ORPHA:171607 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation |
OMIM:212890 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
| Spastic Paraplegia 34, X-Linked |
|
Spastic paraplegia, Impaired vibratory sensation, Spastic gait, Babinski sign, Clonus, Paraplegia |
OMIM:300750 |
| Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
| Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Episodic ataxia, Clumsiness, Parkinsonism with favorable response to dopaminergic medication |
OMIM:168885 |
| Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Abasia, Ataxia |
OMIM:209100 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Impaired tactile sensation, Gait disturbance, Ataxia, Impaired prop... |
ORPHA:98765 |
| Episodic Ataxia Type 5 |
|
Truncal ataxia, Ataxia |
ORPHA:211067 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Rigidity, Spasticity |
OMIM:183050 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Somatic sensory dysfunction, Hand tremor, Steppage gait |
OMIM:300905 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Frequent falls, Falls, Distal sensory impairment |
OMIM:614228 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Gait disturbance, Axonal loss, Peripheral hypomyelinat... |
OMIM:611228 |
| Episodic Ataxia, Type 5 |
|
Episodic ataxia |
OMIM:613855 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Ataxia, Action tremor, Upper limb postural tremor, Tremor by anatomical... |
ORPHA:98769 |
| Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity |
OMIM:607584 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Sensory ataxia, Paresthesia, Peripheral demyelination, Difficulty walking, Motor conduction block... |
ORPHA:2932 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Falls, Myoclonus, Ataxia |
OMIM:614937 |
| Spastic Paraplegia 61, Autosomal Recessive |
|
Spastic paraplegia, Inability to walk, Difficulty walking, Scissor gait, Spasticity |
OMIM:615685 |
| Autosomal Recessive Spastic Paraplegia Type 28 |
|
Impaired tactile sensation, Pain insensitivity, Abolished vibration sense, Lower limb spasticity,... |
ORPHA:101008 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia |
OMIM:258300 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... |
DECIPHER:29 |
| Spastic Ataxia With Congenital Miosis |
|
Spastic ataxia, Hemiplegia/hemiparesis, Ataxia |
ORPHA:1182 |
| Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Rigidity, Ataxia, Spasticity |
ORPHA:2672 |
| Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
| Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
| Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Park... |
OMIM:619279 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Chaddock reflex, Difficulty walking, Decreased compound muscle action potential amplitude, Babins... |
OMIM:619112 |
| Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
| Angelman syndrome (Type 2) |
|
Truncal ataxia, EEG abnormality |
DECIPHER:54 |
| Angelman syndrome (Type 1) |
|
Truncal ataxia, EEG abnormality |
DECIPHER:4 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Nonprogressive cerebellar ataxia, Intention tremor, Broad-based gait |
ORPHA:94122 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Spasticity |
ORPHA:217012 |
| Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Scoliosis, Dystonia, Abnormal motor nerve conduction velocity, Demyelinating peripheral neuropath... |
OMIM:618404 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
| Spinocerebellar Ataxia Type 23 |
|
Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Impaired distal vibration sensation, Dys... |
ORPHA:101108 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Ataxia |
OMIM:618384 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Dysmetria |
OMIM:617917 |
| Early-Onset X-Linked Optic Atrophy |
|
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Babinski sign, Intention tr... |
ORPHA:98890 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Gait ataxia, Action tremor, Decreased number of periph... |
OMIM:180800 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia |
OMIM:616410 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
| Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Kinetic tremor, Tongue tremor, Intention tremor |
OMIM:616736 |
| Spinocerebellar Ataxia Type 38 |
|
Difficulty walking, Somatic sensory dysfunction, Tremor, Gait ataxia |
ORPHA:423296 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Fasciculations, Tremor, Degeneration of anterior horn... |
ORPHA:65684 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... |
ORPHA:352675 |
| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Distal sensory impairment, Rigidity |
OMIM:617018 |
| Dystonia 3, Torsion, X-Linked |
|
Torsion dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Dystonia, Tremor, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Null Syndrome |
|
Inability to walk, Difficulty walking, Decreased nerve conduction velocity, Progressive spastic q... |
ORPHA:280234 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Impaired pain sensation, Gait disturbance, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Benign Hereditary Chorea |
|
Gait disturbance |
ORPHA:1429 |
| Psychogenic Movement Disorders |
|
Gait disturbance |
ORPHA:71519 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, EEG with photoparoxysmal response, Giant somatosensory evoked potentials, Enhancement of ... |
OMIM:601068 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Difficulty walking, Peripheral hy... |
OMIM:605285 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Difficulty walking, Hypertonia, Abnormal pyramidal sig... |
OMIM:600361 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment |
OMIM:212710 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia, EEG abnormality |
OMIM:617831 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spastic paraplegia, Inability to walk, Babinski sign, Abnormality of peripheral nerve conduction,... |
ORPHA:431329 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Unsteady gait |
OMIM:616127 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Gait ataxia, Ataxia |
OMIM:617769 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Abnormal nerve conduction velocity, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Broad-based gait, Intention tremor |
OMIM:601238 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Dysdiadochokinesis, Impaired vibration sensation at ankles, Babinski sign, Ab... |
ORPHA:101007 |
| Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Impa... |
OMIM:618912 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Spinocerebellar Ataxia Type 30 |
|
Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Spastic paraplegia, Clonus, Tip-toe gait, Scissor gait, Spasticity |
ORPHA:101004 |
| X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction |
ORPHA:306617 |
| Autosomal Spastic Paraplegia Type 30 |
|
Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, Lower limb spasticity, Spast... |
ORPHA:101010 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Scoliosis, Decreased motor nerve conduction velocity, Tremor, Decreased sensory nerve conduction ... |
OMIM:609260 |
| Roussy-Lévy Syndrome |
|
Scoliosis, Postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Clumsiness, I... |
ORPHA:3115 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor, Broad-based ... |
OMIM:616053 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:284282 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Spastic paraplegia, Gait disturbance, Abnormal pyramidal sign, Somatic sensory dysfunction, Babin... |
ORPHA:357043 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus, Jerk-locked premyoclonus spikes |
OMIM:615127 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Limb ataxia, Ataxia, EEG with polyspike wave complexes, Myoclonus, Intention tremor, Morning myoc... |
ORPHA:308 |
| Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
| Megalencephaly With Dysmyelination |
|
EEG with photoparoxysmal response, Ataxia, Spasticity |
OMIM:249240 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Dysmetria |
OMIM:616291 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Tremor, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Tremor, Spastic parapare... |
ORPHA:101077 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, EEG... |
OMIM:600143 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Peripheral axonal neuropathy, Babinski sign, Spasticity |
OMIM:611105 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... |
OMIM:601098 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... |
ORPHA:171622 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Spastic gait, Babinski sign, Hand tremor, Progressive spastic paraplegia |
ORPHA:401840 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Clumsiness, Spastic diplegia, Progressive inabili... |
ORPHA:206443 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Ataxia, Giant somatosensory evoked potentials, Cerebellar atrophy, ... |
OMIM:618876 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... |
ORPHA:101081 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Vocal cord paresis, Basal lamina onion... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... |
OMIM:607734 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Gait disturbance, Onion bulb formation, Abnormal auditory evoked potentials, Abnorma... |
OMIM:601455 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Gait disturbance, ... |
ORPHA:363710 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Corpus callosum atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:615268 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Difficulty walking, Abnormal motor evoked potentials, Ataxia, Somatic sensory dysfunction, Lower ... |
ORPHA:320401 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, EEG with photoparoxysmal response, Difficulty walking, Giant somatosensory evoked potenti... |
OMIM:613608 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Dystonia, Tremor, Myoclonus |
OMIM:611092 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Unsteady gait, Dysmetria, Intention tremor,... |
ORPHA:423275 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy |
OMIM:615957 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, EEG with spike-wave complexes, Truncal ataxia, Clu... |
ORPHA:228360 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Spinocerebellar Ataxia Type 43 |
|
Cogwheel rigidity, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Unsteady gait, Periph... |
ORPHA:497764 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive gait ataxia, Progressive cerebellar ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Leukodystrophy, Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia |
ORPHA:1397 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Steppage gait, Toe walking, Impaired distal vibration ... |
OMIM:614436 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Scoliosis, Tremor, Abnormal nerve conduction velocity, Gait disturbance, Paraparesis, Kyphosis, A... |
ORPHA:99014 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Tremor, Incoordination, Hand tremor, Difficulty walkin... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:118210 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Steppage gait, Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:302801 |
| Spinocerebellar Ataxia Type 25 |
|
Scoliosis, Gait ataxia, Diffuse cerebellar atrophy, Progressive cerebellar ataxia, Decreased numb... |
ORPHA:101111 |
| Spastic Ataxia 7, Autosomal Dominant |
|
Dysdiadochokinesis, Spastic ataxia, Optic atrophy, Babinski sign |
OMIM:108650 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
| Choreoathetosis, Familial Inverted |
|
Gait disturbance, Abnormal pyramidal sign, Rigidity, Progressive choreoathetosis |
OMIM:118750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Chronic axonal neuropathy, Distal senso... |
OMIM:606595 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Developmental And Epileptic Encephalopathy 56 |
|
Attention deficit hyperactivity disorder, Poor coordination, Ataxia, Broad-based gait |
OMIM:617665 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Scoliosis, Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased numbe... |
OMIM:609311 |
| Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Postural tremor, Spastic gait, Rigidity |
ORPHA:401849 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Lower limb spasticity, Unsteady gait, Dysmetria,... |
OMIM:616948 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysdiadochokinesis, Hypertonia, Intention tremor, Ataxia, Cerebellar atrophy, Myoclonus, Failure ... |
OMIM:618356 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Dysmetria, Babinski sign, Fasciculations, F... |
OMIM:611302 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Delayed CNS myelination, Upper limb spasticity, Cerebral atrophy, Multifocal e... |
OMIM:618468 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Abnormal lower motor neuron mo... |
ORPHA:95434 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech |
ORPHA:98766 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Gait disturbance, Abnormal autonom... |
ORPHA:139578 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Intention tremor, Broad-based gait, Nonprogre... |
OMIM:117360 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Spinocerebellar Ataxia Type 1 |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Abnormal nerve conduction velocity, Gait disturban... |
ORPHA:98755 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Impaired pain sensation, Paresthesia, Impaired tactile sensation, Difficulty walking, Gait distur... |
ORPHA:435387 |
| Dystonia 27 |
|
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia |
OMIM:616411 |
| Spinocerebellar Ataxia 25 |
|
Scoliosis, Abolished vibration sense, Ataxia, Decreased number of peripheral myelinated nerve fib... |
OMIM:608703 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic paraplegia, Difficulty walking, Cerebral atrophy, Ankle clonus, Lower limb spasticity, Sp... |
OMIM:611252 |
| Parkinson Disease 22, Autosomal Dominant |
|
Tremor, Orthostatic hypotension, Gait disturbance, Resting tremor, Bradykinesia |
OMIM:616710 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Autosomal Dominant Spastic Paraplegia Type 31 |
|
Difficulty walking, Gait disturbance, Hypertonia, Spastic tetraparesis, Spastic gait, Distal sens... |
ORPHA:101011 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Steppage gait, Decreased motor nerve conduction velocity |
OMIM:607678 |
| Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia |
ORPHA:2274 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Scoliosis, Spastic ataxia, Spastic tetraparesis, Cerebellar atrophy, Peripheral axonal neuropathy... |
ORPHA:496756 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Optic atrophy, EEG abnormality, Ataxia |
OMIM:614706 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Difficulty walking, Progressive gait ataxia, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... |
OMIM:615376 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Ataxia |
OMIM:619333 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Scoliosis, Decreased motor nerve conduction velocity, Progressive truncal ataxia, Decreased senso... |
OMIM:270550 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Scoliosis, Aplasia/Hypoplasia of the cerebellum, Ataxia, Cerebral cortical atrophy, Decreased ner... |
ORPHA:1188 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... |
OMIM:608673 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Difficulty walking, Fasciculations, Decreased motor nerve conduction velocity |
OMIM:615575 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Dysmetria, Intention tremor, Babinski sign |
OMIM:613908 |
| Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Hypertonia, Ataxia, Myoclonus, Progressive extrapyramidal movement disorder |
OMIM:612736 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
EEG abnormality, Ataxia, Spasticity |
OMIM:619228 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... |
ORPHA:464440 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Cerebellar atrophy, Abnormal cerebe... |
OMIM:615362 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Action tremor, Unsteady gait, Intention tremor, Frequent falls, Spast... |
ORPHA:314978 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Scoliosis, Paraparesis, Distal sensory impairment, Decreased nerve conduction velocity, Steppage ... |
OMIM:302802 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Truncal ataxia, Difficulty walking, Limb ataxia, Brain atrophy, Cerebellar vermis atrophy |
ORPHA:363432 |
| Episodic Kinesigenic Dyskinesia 2 |
|
Involuntary movements, Chorea, Dystonia, Paroxysmal dyskinesia |
OMIM:611031 |
| Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia |
OMIM:158500 |
| Chorea, Benign Hereditary |
|
Chorea, Gait disturbance |
OMIM:118700 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Ankle clonus, Unsteady gait, Babinski sign, Spasticity |
OMIM:615768 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Gait disturbance, Babinski sign, Ataxia |
OMIM:618418 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... |
OMIM:601382 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Sensory axonal neuropathy, Babinski sign, Dy... |
OMIM:607458 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Ataxia-Pancytopenia Syndrome |
|
Decreased nerve conduction velocity, Ankle clonus, Ataxia, Unsteady gait, Impaired vibration sens... |
OMIM:159550 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Apraxia, Tremor, Neurodegeneration, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:615889 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Dystonia, Tremor, Spastic ataxia, Limb ataxia, Hypertonia, Difficulty walking... |
ORPHA:251282 |
| X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia |
ORPHA:85338 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebral atrophy, Cerebellar atrophy, Myoclon... |
OMIM:616981 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Ataxia, Dysmetria, Intention tremor, Distal sensory impairme... |
OMIM:612674 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Scoliosis, Gait ataxia, Limb ataxia, Kyphosis, Ataxia, Cerebellar atrophy, Peripheral axonal neur... |
OMIM:610743 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tremor, Gait disturbance, Abnormal sensory nerve conduction velocity, Impaired... |
ORPHA:276435 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Tongue ... |
OMIM:618276 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Babinski sign, Optic atrophy, Spasticity |
OMIM:614322 |
| Polymyoclonus, Infantile |
|
Myoclonus, Ataxia |
OMIM:263550 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:605588 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Apraxia, Abnormality of extrapyramidal motor function, Difficulty walking, Gait disturbance, Abno... |
ORPHA:101001 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Dystonia, Choreoathetosis, Spastic par... |
OMIM:608804 |
| Spinocerebellar Ataxia 10 |
|
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... |
OMIM:603516 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Dystonia, Attention deficit hyperactivity disorder, Apraxia, Tremor, Abnormal ... |
ORPHA:52368 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Decreased number of peripheral mye... |
OMIM:607706 |
| Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Chronic axonal neuropathy, Ataxia |
OMIM:260970 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Tremor, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal motor evoked potentials, Spasticity, Impaired vibratory sensation, Abnormal pyramidal si... |
ORPHA:98 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Demyelinating sensory neuropathy, Gait disturbance, Abnormal motor evoked pote... |
ORPHA:99939 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Dysmetria, Intention tremor, Fasciculations |
OMIM:613728 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased amplitude of sensory action potentials, Gait ataxia, Impaired vibration sensation at an... |
ORPHA:90103 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Cogwheel rigidity, Gait ataxia, Incoordination, Pa... |
OMIM:128230 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Spastic ataxia, Optic atrophy, Spastic paraparesis, Babinski sign |
OMIM:613672 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Gait ataxia, Cerebral atrophy, Cerebellar atrophy, Babinski sign, Atrophy/Degeneration affecting ... |
OMIM:616192 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Tremor, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:600116 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Cerebral cortical atrophy, Tortico... |
OMIM:614860 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Craniofacial dystonia, Action tremor, Torticollis, G... |
ORPHA:98807 |
| Myasthenic Syndrome, Congenital, 18 |
|
Difficulty walking, Ataxia |
OMIM:616330 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia |
ORPHA:228169 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Axonal loss, Abnormal pyramidal s... |
OMIM:617672 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign |
OMIM:300660 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Gait disturbance, Distal sensory impairment, Peripheral demy... |
ORPHA:99944 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Increased neuronal autofluorescent li... |
OMIM:256731 |
| Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Gait ataxia, Slurred speech, Cerebellar atrophy, EEG with occipital epileptiform discharges, Opti... |
OMIM:619323 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Ankle clonus, Dysmetria, Babinski sign, Br... |
OMIM:270500 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebral cortical atrophy, Cerebellar atrophy, Stereotypy, Atrophy/Degeneration a... |
OMIM:617862 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Inability to walk, Postural tremor, Decreased motor nerve conduction velocity, Decreased amplitud... |
ORPHA:99950 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Scoliosis, Delayed CNS myelination, Cerebral atrophy, Cerebellar atrophy, Waddling gait, Peripher... |
OMIM:619090 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy |
OMIM:141500 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Dystonia, Tremor, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... |
ORPHA:96 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| Spastic Ataxia 9, Autosomal Recessive |
|
Abnormal pyramidal sign, Ataxia, Cerebellar vermis atrophy, Babinski sign, Frequent falls, Spasti... |
OMIM:618438 |
| Autosomal Recessive Spastic Paraplegia Type 76 |
|
Gait ataxia, Limb ataxia, Ataxia, Ankle clonus, Lower limb spasticity, Babinski sign |
ORPHA:488594 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Action tremor, Ataxia, Intention tremor |
OMIM:302500 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Scoliosis, Clumsiness, Progressive gait ataxia, Limb ataxia, Axonal loss, Pro... |
ORPHA:1175 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Scoliosis, Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory... |
ORPHA:99953 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... |
OMIM:617225 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... |
OMIM:610185 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Scoliosis, Gait disturbance, Brain atrophy, Onion bulb formation, Distal sensory impairment, Decr... |
OMIM:615284 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Distal ... |
OMIM:618387 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| Dystonia With Ringbinden |
|
Chorea, Dystonia, Gait disturbance |
OMIM:224550 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Tremor, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... |
OMIM:615528 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Tremor, Interictal EEG abnormality, Clumsiness, Chorea, Poor fine motor coordination, C... |
ORPHA:79263 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, G... |
OMIM:603472 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Cerebral atrophy, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:613925 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Ataxia, Unsteady gait, Dysmetria, Spasticity |
OMIM:213200 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Tremor, Gait ataxia, Ataxia, Peripheral axonal neuropathy, Myoclonus, Babinski sign, Fa... |
OMIM:607317 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Peripheral demyelination, Spastic tetraparesis, Babinski sign, Decreased nerve condu... |
OMIM:249900 |
| Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Sensory axonal neuropathy, Cerebellar atrophy, D... |
OMIM:617770 |
| Hypermanganesemia With Dystonia 2 |
|
Scoliosis, Dystonia, Tremor, Gait disturbance, Cerebral atrophy, Ankle clonus, Bradykinesia, Cere... |
OMIM:617013 |
| Spastic Paraparesis-Deafness Syndrome |
|
Spastic paraparesis, Gait disturbance, Ataxia, Hemiplegia/hemiparesis, Impaired pain sensation, H... |
ORPHA:2815 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Peripheral axonal ... |
OMIM:610357 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Myo... |
ORPHA:98763 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Abnormal motor nerve conduction velocity, Spastic gait, Babinski sign, Distal se... |
ORPHA:100998 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Optic atrophy, Truncal ataxia, Cerebral atrophy |
OMIM:611726 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Scoliosis, Impaired proprioception, Mixed demyelinating and axonal polyneuropathy, Impaired vibra... |
ORPHA:101085 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Scoliosis, Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potenti... |
OMIM:601596 |
| Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Optic atrophy... |
ORPHA:385 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Weight loss, Ataxia, Bradykinesia, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Inability to walk, Scoliosis, Dystonia, Chorea, Hyperkinetic movements, Cerebral atrophy, Oculogy... |
OMIM:614254 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Positive Romberg sign, Decreased motor nerve conduction velocity, Vocal cord paresis, Distal sens... |
OMIM:601152 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Dystonia, Tremor, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
| Infantile Neuroaxonal Dystrophy |
|
Dystonia, Diffuse axonal swelling, Gait disturbance, Abnormal pyramidal sign, Spastic tetraparesi... |
ORPHA:35069 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Scoliosis, Ataxia, Cerebellar atrophy, Spastic tetraplegia, Peripheral axonal neuropathy, Optic a... |
OMIM:617207 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
| Nescav Syndrome |
|
Inability to walk, Cerebral atrophy, Cerebellar atrophy, Peripheral axonal neuropathy, Cerebellar... |
OMIM:614255 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Choreoathetosis, Spastic paraparesis, Ataxia |
ORPHA:67047 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Neurodegeneration, Cerebral atrophy, Ataxia, Cerebellar atrophy, EEG abnormality, Optic atrophy |
OMIM:610951 |
| Friedreich Ataxia |
|
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Ga... |
OMIM:229300 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormal electroretinogram, Abnormality of visual evoked potentials, Ataxia, Decreased nerve cond... |
ORPHA:1933 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Truncal ataxia, Ataxia |
OMIM:617584 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Scoliosis, Dystonia, Tremor, Cerebral atrophy, Ankle clonus, Bradykinesia, Progressive inability ... |
ORPHA:521406 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... |
OMIM:260300 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Clumsiness, Ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:608029 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:600882 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... |
OMIM:604326 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... |
OMIM:605253 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia |
OMIM:208700 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Dystonia, Diffuse cerebellar atrophy, Delayed CNS myelination, Abnormality of extrapy... |
ORPHA:352596 |
| Dystonia 16 |
|
Postural tremor, Abnormal pyramidal sign, Bradykinesia, Torticollis, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Difficulty walking, Limb ataxia, Progr... |
ORPHA:284324 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Oculomotor apraxia, Cerebellar hypoplasia, Ata... |
ORPHA:313772 |
| Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Abnormal pyramidal sign, Ataxia, Unsteady gait, Spastic tetraplegia, Decreased nerve conduction v... |
OMIM:256600 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Unsteady gait, Impaired vibratory sensation, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Spastic Paraplegia 35, Autosomal Recessive |
|
Spastic paraplegia, Dystonia, Spastic paraparesis, Difficulty walking, Spastic tetraparesis, Neur... |
OMIM:612319 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Spastic paraplegia, Scoliosis, Upper limb spasticity, Gait disturbance, Kyphosis, Lower limb spas... |
OMIM:611225 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Tremor, Myoclonus, Ataxia |
OMIM:614018 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:613287 |
| Parkinson Disease 17 |
|
Tremor, Akinesia, Resting tremor, Bradykinesia, Parkinsonism, Rigidity |
OMIM:614203 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Scoliosis, Difficulty walking, Kyphosis, Peripheral axonal neuropathy, Distal sensory impairment,... |
OMIM:617087 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic paraplegia, Scoliosis, Limb dysmetria, Head tremor, Upper limb spasticity, Kyphosis, Knee... |
OMIM:614409 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Inability to walk, Cortical myoclonus, EEG with spike-wave complexes, EEG with series of focal sp... |
ORPHA:168491 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased number of peripheral myelina... |
OMIM:145900 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Inability to walk, Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618184 |
| Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Dystonia, Corpus callosum atrophy, Hypsarrhythmia, Hyperkinetic movements, Cer... |
OMIM:618285 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Scoliosis, Dystonia, Gait ataxia, Spastic ataxia, Cerebral cortical atrophy, Cerebellar atrophy, ... |
OMIM:611390 |
| Gordon Holmes Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, Ataxia |
OMIM:212840 |
| Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Spastic paraplegia, Temporal optic disc pallor, Ataxia, Absent brainstem auditory responses, Moto... |
ORPHA:1215 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Dystonia, Gait ataxia, Cerebellar Purkinje layer atrophy, Chorea... |
ORPHA:98756 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Tremor, Apraxia, Gait ataxia, Cerebellar hypoplasia, Cerebellar atrophy, EEG a... |
OMIM:617810 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
| Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Hypertonia, Ataxia |
OMIM:617020 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... |
ORPHA:306692 |
| Myopathy With Extrapyramidal Signs |
|
Dystonia, Tremor, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxi... |
OMIM:615673 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Dystonia, Chorea, Gait disturbance, Craniofacial dystonia, Ataxia, Myoclonus, Involuntary movemen... |
OMIM:617282 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Leukodystrophy, Loss of ... |
OMIM:610532 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Ataxia, Hyperactivity |
OMIM:613402 |
| Baker-Gordon Syndrome |
|
Inability to walk, Scoliosis, Dystonia, Hyperkinetic movements, Ataxia, EEG abnormality, Stereoty... |
OMIM:618218 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Lower limb spasticity, Spastic g... |
OMIM:607565 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Apraxia, Gait ataxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... |
OMIM:607136 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Tremor, Prolonged somatosensory evoked potentials, Writer's cramp, Myoclonus |
OMIM:608105 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, EEG with photoparoxysmal response, Blepharospasm, Ataxia, Giant somatosensory evoked pote... |
OMIM:607876 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Tremor, Ataxia, Cerebellar atrophy, Cerebral hypomyeli... |
OMIM:612438 |
| Spinocerebellar Ataxia 28 |
|
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... |
OMIM:610246 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Tremor, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... |
OMIM:615924 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Axonal loss, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tong... |
OMIM:618170 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia |
OMIM:615705 |
| Ceroid Lipofuscinosis, Neuronal, 4B (Kufs Type), Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Increased n... |
OMIM:162350 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... |
OMIM:214400 |
| Lopes-Maciel-Rodan Syndrome |
|
Scoliosis, Dystonia, Tremor, Hypertonia, Abnormal pyramidal sign, Cerebral atrophy, Kyphosis, Ank... |
OMIM:617435 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Babi... |
OMIM:609270 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Dystonia, Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG ... |
ORPHA:457205 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Dystonia, Apraxia, Tremor, Spastic paraparesis, Incoordination, Cerebral atro... |
OMIM:615157 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Gait disturbance, Toe walking, Lower limb hypertonia, Bradykinesia,... |
ORPHA:100984 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Scoliosis, Truncal ataxia, Corpus callosum atrophy, Head tremor, Upper limb spasticity, Difficult... |
ORPHA:320391 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Gait disturbance, Hypertonia, Abnormal electroretinogram, EEG abnormality, Optic atrophy, Abnorma... |
ORPHA:2971 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Difficulty walking, Decreased number of peripheral mye... |
OMIM:604563 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Abnormality of extrapyramidal motor function, Ataxia, Dysmetria, Intention tremor, Spasticity |
OMIM:616140 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Spastic paraplegia, Spastic paraparesis, Upper limb spasticity, Difficulty walking, Knee clonus, ... |
OMIM:275900 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Dystonia, Gait ataxia, Clumsiness, Progressive gait ataxia, Toe walking, Decerebrate rigidity, Ba... |
ORPHA:309256 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Intention tremor, Babinski sign, Dysmetria, Clonus, Nonprogressive cerebellar... |
OMIM:301310 |
| Spinocerebellar Ataxia 1 |
|
Abnormality of extrapyramidal motor function, Impaired proprioception, Spasticity, Dysdiadochokin... |
OMIM:164400 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Tremor, Clumsiness, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Ataxia... |
ORPHA:79262 |
| Autosomal Spastic Paraplegia Type 58 |
|
Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramidal sign, Intentio... |
ORPHA:397946 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Torsion dystonia, Dystonia, Paresthesia, Chorea, Paroxysmal dyskinesia, Ataxia, Lower limb spasti... |
ORPHA:98811 |
| Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Inability to walk, Dystonia, Delayed myelination, Chorea, Cerebral atrophy, Ataxia, Cerebellar at... |
OMIM:617804 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign |
OMIM:605726 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Spastic paraplegia, Knee clonus, Ankle clonus, Ataxia, Lower limb spasticity, Spastic gait, Parki... |
OMIM:604187 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Abnormal pyramidal sign, Ataxia, Myoclonus, Choreoathetosis |
OMIM:125370 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ability to walk, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:617916 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Dystonia, Gait ataxia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... |
ORPHA:101109 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Dystonia, Leukodystrophy, Ataxia, Abnormal upper motor neuron morphology, Cerebr... |
OMIM:607694 |
| Primary Dystonia, Dyt2 Type |
|
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... |
ORPHA:99657 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... |
OMIM:600363 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Gait ataxia, Hypertonia, Abnormal pyramidal sign, Dysmetria, Intention tremor, Broad-ba... |
OMIM:617964 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Difficulty walking, Cerebellar atrophy, Peripheral axonal neuropathy, Babinski sign, Optic atroph... |
ORPHA:468661 |
| Developmental And Epileptic Encephalopathy 92 |
|
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia, EEG abnormality, Myoclonus, Sp... |
OMIM:617829 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Lower limb spasticity, Impaired tandem gait, Cerebellar atrophy, Myoclonus, Dysme... |
OMIM:619028 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Inability to walk, Scoliosis, Dystonia, Delayed myelination, Kyphosis, Cerebral atrophy, Ataxia, ... |
OMIM:616756 |
| Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration |
|
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:608895 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... |
OMIM:605361 |
| Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Dystonia, Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis |
OMIM:614820 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Difficulty walking, Limb tremor, Lower limb spasticity, Spastic gait, Babinski sign, Progressive ... |
ORPHA:401820 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Chorea, Cerebral atrophy, Cerebellar atrophy, Spastic tetraplegia, Clonus |
OMIM:613811 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Generalized cerebral atrophy/hypoplasia, Cerebellar Purkinje layer atrophy, Chorea, Gai... |
ORPHA:98759 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Hypertonia, Poor fine motor coordination, Progressive inability to walk, Upper motor ... |
ORPHA:137898 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Scoliosis, Apraxia, Extrapyramidal muscular rigidity, Slurred speech, Gait dis... |
ORPHA:93952 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:612016 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Scoliosis, Leukodystrophy, Dystonia, Difficulty walking, Abnormal pyramidal sign, Cerebral atroph... |
ORPHA:527497 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Tremor, Spastic paraparesis, Abnormality of extrapyramidal motor function, Cerebral atr... |
OMIM:300894 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Ataxia, Increased neuronal... |
OMIM:204500 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Dystonia, Clumsiness, Progressive gait ataxia, Intention tremor, Decerebrate rigidity, Babinski s... |
ORPHA:309263 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Inability to walk, Tremor, Somatic sensory dysfunction,... |
ORPHA:90117 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Dysdiadochokinesis, Gait disturbance, Rigidity, Bradykinesia |
OMIM:609161 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Dystonia, Episodic ataxia, Paresthesia, Paroxysmal dyskinesia, Abnormal pyram... |
ORPHA:53583 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Distal sensory impairment, Frequent falls, Spasticity |
OMIM:616719 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Gait ataxia, Cerebral atrophy, Torticollis, Cerebellar atrophy, Frequent falls, Spasticity |
OMIM:618369 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Gait ataxia, Clumsiness, Truncal ataxia, Slurred speech, Oculomotor apraxia, Unsteady g... |
ORPHA:453521 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... |
OMIM:617633 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebral atrophy, Ataxia, Sensory axonal neuropathy, Cerebellar atrophy, Increased neuronal autof... |
OMIM:610127 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... |
OMIM:224050 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Tremor, Ataxia, EEG abnormality, Choreoathetosis |
OMIM:612126 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Scoliosis, Cerebellar atrophy, Spastic tetraparesis, Brain atrophy |
OMIM:618741 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Progressive cerebellar ataxia, Ataxia, Upper motor neuron dysfunction |
ORPHA:3177 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Scoliosis, Dystonia, Choreoathetosis, Truncal ataxia, Tremor, Gait ataxia, Limb ataxia, Oculomoto... |
OMIM:208920 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... |
OMIM:616204 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Spinocerebellar Ataxia 48 |
|
Dystonia, Tremor, Gait ataxia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... |
OMIM:618093 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Sensory axonal neuropathy, Torticollis, Dilated fourth ventricle, Small for gestational a... |
OMIM:619054 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Spastic paraplegia, Decreased motor nerve conduction velocity, Lower limb spasticity, Spastic gai... |
OMIM:256840 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased n... |
ORPHA:101082 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Dystonia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Hyperkinetic movements, Torticollis, In... |
ORPHA:98810 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Gait disturbance, Cerebral atrophy, Bradykinesia, Action tremor, Cerebellar atrophy, Par... |
OMIM:300423 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Inability to walk, Gait ataxia, Clumsiness, Ataxia, Abnormality of pattern visual evoked potentia... |
ORPHA:1947 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Dystonia, Tremor, Gait ataxia, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Gait disturbance, Hemiplegia/hemiparesis, Ataxia |
ORPHA:2572 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Postural tremor, Impaired vibratory sensation, Gait disturbance, Lower limb s... |
ORPHA:100988 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... |
ORPHA:391411 |
| Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Lethargy, Hemiparesis, Ataxia, Paralysis, EEG abnormality, Myoclonus, Babins... |
OMIM:606777 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... |
ORPHA:512260 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... |
OMIM:614831 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Ataxia, Cerebellar atrophy, Failure to thrive, Dysmetria, Optic disc pallor, Spasticity |
OMIM:617954 |
| Optic Atrophy 1 |
|
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Ataxia |
OMIM:165500 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... |
ORPHA:98764 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Dystonia, Hyperkinetic movements, Cerebral atrophy, Myoclonus, Choreoathetosis |
OMIM:618497 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Gait disturbance, Ataxia, Abnormal auditory evoked potentials, Abnormal amplitude of pattern reve... |
OMIM:125250 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Leukodystrophy, Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, ... |
OMIM:617560 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... |
OMIM:607831 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Scoliosis, Paresthesia, Intention tremor, Abnormal pyramidal sign, Kyphosis, Ataxia, Cerebral cor... |
ORPHA:48431 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, Hypertonia, Neurodegeneration, CNS demyelination, Decerebrat... |
OMIM:245200 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebral atrophy, Ataxia, Cerebellar atrophy, Peripheral axonal neuropathy, Distal sensory impair... |
OMIM:607250 |
| Spinocerebellar Ataxia 34 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... |
OMIM:133190 |
| Pontocerebellar Hypoplasia, Type 1E |
|
EEG with burst suppression, Cerebellar hypoplasia, Cerebellar atrophy, Myoclonus, Optic atrophy, ... |
OMIM:619303 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia |
ORPHA:404493 |
| Progressive Myoclonic Epilepsy Type 3 |
|
EEG with focal epileptiform discharges, Cerebral atrophy, Chin myoclonus, Progressive cerebellar ... |
ORPHA:263516 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
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Ataxia |
OMIM:212835 |
| Pelizaeus-Merzbacher Disease |
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Dystonia, Gait disturbance, Ataxia, Optic atrophy, Choreoathetosis, Abnormality of visual evoked ... |
ORPHA:702 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria, Attention deficit hyperactivity disorder |
OMIM:619191 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Dysdiadochokinesis, Spastic paraplegia, Degeneration of the lateral corticospinal tracts, Gait at... |
OMIM:607259 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Limb ataxia, Gait ataxia |
ORPHA:404499 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Lethargy, Impaired vibratory sensation, Spastic paraparesis, Poor coordination, Abnormal pyramida... |
OMIM:238970 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
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Tremor, Clumsiness, Chorea, Gait disturbance, Abnormal pyramidal sign, Oromandibular dystonia, Pa... |
ORPHA:216873 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Dystonia, Tremor, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Metachromatic Leukodystrophy, Adult Form |
|
Dystonia, Clumsiness, Orthostatic hypotension due to autonomic dysfunction, Progressive gait atax... |
ORPHA:309271 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait |
ORPHA:284271 |
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
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Pseudobulbar paralysis, Gait disturbance, Nonarteritic anterior ischemic optic neuropathy, Abnorm... |
OMIM:125310 |
| Peroxisome Biogenesis Disorder 8B |
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Leukodystrophy, Spastic paraparesis, Corpus callosum atrophy, Ataxia, Cerebellar vermis atrophy, ... |
OMIM:614877 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
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Gait ataxia, Truncal ataxia, Head tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia,... |
ORPHA:352641 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Scoliosis, Clumsiness, Impaired vibratory sensation, Gait disturbance, Chronic axonal neuropathy,... |
ORPHA:88644 |
| Spinocerebellar Ataxia Type 11 |
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Dystonia, Difficulty walking, Abnormal pyramidal sign, Progressive cerebellar ataxia, Gait imbalance |
ORPHA:98767 |
| Rapid-Onset Dystonia-Parkinsonism |
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Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Cerebellar atrophy... |
ORPHA:71517 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:615386 |
| Encephalopathy, Recurrent, Of Childhood |
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Lethargy, Truncal ataxia, Incoordination, Chorea, Babinski sign, Intention tremor, Athetosis, Cho... |
OMIM:130950 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
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Sensory ataxia, Gait ataxia, Cerebral atrophy, Atrophy of the spinal cord, Demyelinating peripher... |
ORPHA:445062 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Leukodystrophy, Hypsarrhythmia, Cerebral atrophy, Cerebellar atrophy, Kyphosco... |
OMIM:618006 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
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Clumsiness, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment,... |
OMIM:610003 |
| Pontocerebellar Hypoplasia, Type 1A |
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Cerebellar hypoplasia, Degeneration of anterior horn cells, Ataxia, Fasciculations, Hypoplasia of... |
OMIM:607596 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Scoliosis, Dystonia, Tremor, Gait ataxia, Kyphosis, Cerebellar atrophy, Failur... |
OMIM:617988 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis, Herniation of intervertebral nuclei, Abnormal lumbar spine morph... |
ORPHA:101005 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Tremor, Gait ataxia, Head tremor,... |
OMIM:606002 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, EEG abnormality, Myoclonus |
ORPHA:86814 |
| Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, Hemiparesis, Ataxia, Peripheral demyelination |
OMIM:165200 |
| Huntington Disease |
|
Gait ataxia, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity, Neuronal loss in central nervous... |
OMIM:143100 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Dystonia, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... |
ORPHA:139485 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Leukodystrophy, Dystonia, Lethargy, Ataxia, Brain atrophy, Cerebellar atrophy, Failure to thrive,... |
OMIM:618226 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
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Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... |
OMIM:606183 |
| Aicardi-Goutieres Syndrome 6 |
|
Dystonia, Loss of ability to walk, Tremor, Rigidity |
OMIM:615010 |
| Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Hypsarrhythmia, Cerebellar atrophy, Optic atrophy, Spasticity |
OMIM:617086 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Spastic paraplegia, Cerebral atrophy, Tetraparesis, Head titubation, Ankle clonus, Ataxia, Neurod... |
OMIM:615491 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis, EEG abnormality |
OMIM:300518 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
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Scoliosis, Tremor, Difficulty walking, Degeneration of anterior horn cells, Tongue fasciculations... |
OMIM:159950 |
| Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Hyperactivity |
OMIM:609924 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... |
OMIM:609307 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Spastic paraplegia, Ataxia, Lower limb spasticity, Spastic gait, Parkinsonism, Dysmetria, Broad-b... |
OMIM:613647 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Gait disturbance, Ataxia, Waddling gait, Distal sensory impairment, Babinski sign, Steppage gait,... |
OMIM:617882 |
| Basal Ganglia Calcification, Idiopathic, 1 |
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Dysdiadochokinesis, Dystonia, Tremor, Limb dysmetria, Chorea, Gait disturbance, Abnormal pyramida... |
OMIM:213600 |
| Urocanase Deficiency |
|
Tremor, Ataxia |
OMIM:276880 |
| Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
| Sialidosis Type 1 |
|
Scoliosis, Tremor, Abnormal form of the vertebral bodies, Slurred speech, Gait disturbance, Kypho... |
ORPHA:812 |
| Friedreich Ataxia |
|
Inability to walk, Scoliosis, Decreased motor nerve conduction velocity, Dystonia, Gait ataxia, C... |
ORPHA:95 |
| Spastic Paraplegia Type 7 |
|
Scoliosis, Abnormal pyramidal sign, Lower limb hypertonia, Somatic sensory dysfunction, Spastic g... |
ORPHA:99013 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Tremor, Spastic paraparesis, Cerebral atrophy, Abnormal autonomic nervous system physio... |
ORPHA:329284 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... |
OMIM:616795 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Choreoathetosis, Abnormality of extrapyramidal motor function |
OMIM:301020 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Chorea, Peripheral hypomyelination, Cerebral atrophy, ... |
OMIM:604168 |
| Huntington Disease-Like 1 |
|
Gait ataxia, Clumsiness, Incoordination, Chorea, Slurred speech, Poor fine motor coordination, Ga... |
ORPHA:157941 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Corpus callosum atrophy, Cerebral atrophy, Ataxia, Cerebellar atrophy, Dysmetria, Chore... |
OMIM:618088 |
| Spinocerebellar Ataxia Type 29 |
|
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... |
ORPHA:208513 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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