Ataxia, Sensory, 1, Autosomal Dominant |
|
Gait instability, worse in the dark, Positive Romberg sign, Babinski sign, Sensory ataxia |
OMIM:608984 |
Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
Optic Atrophy 2 |
|
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
X-Linked Spastic Paraplegia Type 34 |
|
Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, Shuffling gait, Low... |
ORPHA:171607 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
|
Impaired temperature sensation, Progressive cerebellar ataxia, Axonal loss |
OMIM:212890 |
Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
Spastic Paraplegia 34, X-Linked |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait |
OMIM:300750 |
Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Hypoesthesia, Decreased nerve conduction velocity, Segmental peripheral demyelination/rem... |
OMIM:601098 |
Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk |
OMIM:209100 |
Paroxysmal Tonic Upgaze, Benign Childhood, With Ataxia |
|
Parkinsonism with favorable response to dopaminergic medication, Clumsiness, Episodic ataxia |
OMIM:168885 |
Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Decreased nerve conduction velocity, Rigidity, Spasticity, Fasciculations |
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 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Peripheral hypomyelination, Decreased nerve conduction velocity, Onion bulb formation, Decreased ... |
OMIM:611228 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Spontaneous pain sensation, Motor conduction block, Sensory ataxia, Decreased nerve conduction ve... |
ORPHA:2932 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus |
OMIM:607584 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor |
OMIM:258300 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Hypertrophic nerve chang... |
DECIPHER:29 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Episodic Ataxia, Type 7 |
|
Episodic ataxia |
OMIM:611907 |
Benign Paroxysmal Tonic Upgaze Of Childhood With Ataxia |
|
Episodic ataxia |
ORPHA:1179 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Difficulty walking |
ORPHA:85292 |
Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity |
ORPHA:2672 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Gait ataxia |
ORPHA:94122 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Babinski sign, Frequent falls, Difficulty walking, Chaddock reflex, Decreased compound muscle act... |
OMIM:619112 |
Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
Angelman syndrome (Type 2) |
|
EEG abnormality, Truncal ataxia |
DECIPHER:54 |
Angelman syndrome (Type 1) |
|
EEG abnormality, Truncal ataxia |
DECIPHER:4 |
Cerebellar Ataxia And Neurosensory Deafness |
|
Ataxia |
OMIM:212850 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Spasticity, Impaired vibratory sensation |
ORPHA:217012 |
Parkinsonism With Polyneuropathy |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting tremor, De... |
OMIM:619279 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia |
ORPHA:1180 |
Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
Leukodystrophy, Hypomyelinating, 18 |
|
Failure to thrive, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysm... |
OMIM:618404 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction ... |
OMIM:162500 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Decreased motor nerve conduction velocity, Vocal cord paralysis |
ORPHA:640 |
Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
Early-Onset X-Linked Optic Atrophy |
|
Decreased nerve conduction velocity, Intention tremor, Dysdiadochokinesis, Babinski sign, Optic a... |
ORPHA:98890 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased ... |
OMIM:180800 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia, Somatic sensory dysfunction |
ORPHA:423296 |
Tremor, Hereditary Essential, 6 |
|
Kinetic tremor, Vocal tremor, Postural tremor, Head tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Postural tremor, Kinetic tremor, Tongue tremor |
OMIM:616736 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, EEG with irregular generalize... |
OMIM:601068 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Demyelinating peripheral neuropathy, Babinski sign, Frequent falls, Impaired distal vibra... |
OMIM:619742 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Rigidity, Resting tremor |
OMIM:619491 |
Null Syndrome |
|
Ataxia, Inability to walk, Decreased nerve conduction velocity, Progressive spastic quadriplegia,... |
ORPHA:280234 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait ataxia |
OMIM:617018 |
Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Decreased nerve conduction velocity, Tremor |
ORPHA:1368 |
Amyotrophic Lateral Sclerosis 11 |
|
Somatic sensory dysfunction, Upper motor neuron dysfunction, Decreased nerve conduction velocity |
OMIM:612577 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Hand tremor, Impaired vibration sensation in the lower limbs... |
ORPHA:352675 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Decreased nerve conduction velocity, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:101078 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Tremor, Difficulty walking, Abnormality of somatosensory evoked potentials, Peripheral demyelinat... |
ORPHA:206594 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations, Degeneration of anterior horn cells, Abnormality of peripheral nerve cond... |
ORPHA:65684 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Hereditary Motor And Sensory Neuropathy V |
|
Hypertonia, Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Pe... |
OMIM:600361 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Distal se... |
OMIM:608323 |
Ichthyosis, Hepatosplenomegaly, And Cerebellar Degeneration |
|
Ataxia |
OMIM:242520 |
Cataract-Ataxia-Deafness-Retardation Syndrome |
|
Ataxia, Distal sensory impairment |
OMIM:212710 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Sensory axonal neuropathy, Dysmetria |
OMIM:612437 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Gait disturbance, Tremor, Impaired pain sensation, Abnormal nerve conduction velocity |
ORPHA:101075 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Gait ataxia |
OMIM:601238 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Spasticity, Abnormality of p... |
ORPHA:431329 |
Glutathionuria |
|
Tremor |
OMIM:231950 |
Spinocerebellar Ataxia Type 30 |
|
Gait ataxia, Limb ataxia |
ORPHA:211017 |
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 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Impaired vibratory sensation, Decreased motor nerve conduction velocity, Decreased amplitude of s... |
OMIM:618912 |
Autosomal Recessive Spastic Paraplegia Type 27 |
|
Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign, Spastic paraplegia, Ab... |
ORPHA:101007 |
Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Clumsiness, Limb ataxia, Impaired vibratory sensation, Decreased motor nerve cond... |
ORPHA:3115 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction |
ORPHA:306617 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb fo... |
OMIM:609260 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:284282 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:617917 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
Autosomal Recessive Spastic Paraplegia Type 24 |
|
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy, Ataxia |
OMIM:136600 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
Dystonia 27 |
|
Oromandibular dystonia, Action tremor, Laryngeal dystonia, Writer's cramp, Postural tremor |
OMIM:616411 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Demyelinating peripheral neuropathy, Spastic paraparesis, Decreased motor nerv... |
ORPHA:101077 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Myoclonus, Cerebellar atrophy, Increased neuronal auto... |
OMIM:600143 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Babinski sign, Peripheral axonal neuropathy, Tremor, Spasticity |
OMIM:611105 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Babinski sign, Progressive spastic paraplegia, Spastic gait, Lower limb spasticity |
ORPHA:401840 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Spontaneous pain sensation, Kyphoscoliosis, Demyelinating peripheral neuropathy, ... |
ORPHA:101081 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Cerebellar ... |
OMIM:618876 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebral atrophy, Corpus callosum atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Ataxia, Abnormal motor evoked potentials, Abnormality of visual evoked potentials, Lower limb spa... |
ORPHA:320401 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 41 |
|
Gait ataxia |
ORPHA:458798 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Poor gross motor coordination, Motor conduction block, Inability to wa... |
ORPHA:99948 |
Spastic Paraplegia 63, Autosomal Recessive |
|
Hypertonia, Impaired vibration sensation at ankles, Babinski sign, Spastic paraplegia, Gait distu... |
OMIM:615686 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Peripheral axonal neuropathy, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Sensory ataxia, Decreased motor ner... |
OMIM:614895 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Late-Infantile/Juvenile Krabbe Disease |
|
EEG with persistent abnormal rhythmic activity, Hemiplegia, Ataxia, Loss of ambulation, Acropares... |
ORPHA:206443 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia |
ORPHA:1397 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Axonal degeneration, Decreased motor nerve con... |
OMIM:302800 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Kyphosis, Ataxia, Scoliosis, Optic atrophy, Tremor, Gait disturbance, Impaired pain ... |
ORPHA:99014 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy, Dysdiadochokinesis, Babinski sign, Spastic ataxia |
OMIM:108650 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance |
OMIM:611808 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impa... |
OMIM:614436 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Spinocerebellar Ataxia Type 25 |
|
Abnormal cerebellar cortex morphology, Diffuse cerebellar atrophy, Decreased number of large peri... |
ORPHA:101111 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Steppage gait |
OMIM:302801 |
Spinocerebellar Ataxia Type 43 |
|
Decreased number of large peripheral myelinated nerve fibers, Cerebellar vermis atrophy, Progress... |
ORPHA:497764 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
Triose Phosphate-Isomerase Deficiency |
|
Diaphragmatic paralysis, Decreased nerve conduction velocity |
ORPHA:868 |
Autosomal Spastic Paraplegia Type 72 |
|
Impaired vibration sensation at ankles, Spastic gait, Postural tremor, Rigidity |
ORPHA:401849 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Hypoesthesia, Onion bulb formation, Decreased motor nerve conduction ... |
OMIM:609311 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Gait disturbance, Ataxia |
ORPHA:2274 |
Cln5 Disease |
|
EEG with focal spikes, Ataxia, Inability to walk, Poor gross motor coordination, EEG with spike-w... |
ORPHA:228360 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech |
ORPHA:98766 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Atrophy/Degeneration affecting the brains... |
OMIM:619862 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Hypertonia, Ataxia, Failure to thrive, Decreased nerve conduction velocity, Dysmetria, Intention ... |
OMIM:618356 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Abnormal flash visual evoked potentials, Progressive cerebellar ataxia, Bradykine... |
ORPHA:98755 |
Epilepsy, Progressive Myoclonic, 8 |
|
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... |
OMIM:616230 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Vestibular schwannoma, Decreased compound muscle action potential amplitude, Distal sensory impai... |
OMIM:613641 |
Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Upper limb spasticity, Cerebral atrophy, Cerebellar atrophy, Delayed CNS myeli... |
OMIM:618468 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Impaired proprioception, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramida... |
ORPHA:95434 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Broad-based gait, Lumbar hyperlordosis, Poor fine motor coordination, Decreased n... |
ORPHA:435387 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk |
OMIM:619333 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebral atrophy, Ankle clonus, Babinski sign, Spastic paraplegia, Difficulty walking, Cerebellar... |
OMIM:611252 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal autonomic nervous system physiology, Decreased motor nerve conduction velocity, Babinski... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Distal sensory impairment, ... |
OMIM:606595 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Optic atrophy, Ataxia, EEG abnormality, Cerebellar atrophy |
OMIM:614706 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria... |
ORPHA:284332 |
Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Resting tremor, Orthostatic hypotension, Gait disturbance, Tremor |
OMIM:616710 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Cerebral cortical atrophy, Decreased nerve conduction velocity, Scoliosis, Aplasia/Hypopl... |
ORPHA:1188 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Cerebellar vermis atrophy, Decreased num... |
OMIM:270550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Distal sen... |
OMIM:601382 |
Spinocerebellar Ataxia 23 |
|
Dysmetria, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Tremor, G... |
OMIM:610245 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Fasciculations, Difficulty walking, Decreased motor nerve conduction velocity |
OMIM:615575 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Progressive spastic paraparesis, Cerebell... |
ORPHA:496756 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617133 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Decreased motor nerve conduction velocity, Babin... |
OMIM:270685 |
Ataxia, Deafness, And Cardiomyopathy |
|
Ataxia |
OMIM:208750 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Brain atrophy, Limb ataxia, Truncal ataxia, Difficulty walking |
ORPHA:363432 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Babinski sign, Tremor, Diffuse cerebral atroph... |
OMIM:615362 |
Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropathy, Tremor, Progressive gait... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Decreased nerve conduction velocity, Scoliosis, Distal sensory impairment, Steppage ... |
OMIM:302802 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Impaired vibration sensation in the lower... |
OMIM:159550 |
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus |
|
Ataxia |
OMIM:158500 |
Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
Chorea, Benign Hereditary |
|
Gait disturbance, Chorea |
OMIM:118700 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal cerebellum morphology, Ataxia, Action tremor, Poor fine motor coordination, Bradykinesia... |
ORPHA:98762 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Neurodegeneration, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
X-Linked Intellectual Disability-Ataxia-Apraxia Syndrome |
|
Apraxia, Ataxia |
ORPHA:85338 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic ataxia, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinsk... |
ORPHA:251282 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Failure to thrive, Ataxia, Inability to walk, Hypoplasia of the pons, Tetraparesis, Global brain ... |
OMIM:618276 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Tremor, Spasticity, Unsteady gait |
OMIM:615768 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Fasciculations, Gait disturbance, Tremor, Impaired distal vibration sensation,... |
ORPHA:276435 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Kyphoscoliosis, Myelin tomacula, Decreased sensory nerve conduction velocity, S... |
OMIM:145900 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction... |
OMIM:605588 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, S... |
OMIM:610743 |
Parkinsonism With Spasticity, X-Linked |
|
Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Cogwheel rigidity, Spasticity |
OMIM:300911 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Gait disturbance, Difficulty walking, Spasticity, Apraxia, Abnormality o... |
ORPHA:101001 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Demyeli... |
ORPHA:99939 |
Choreoathetosis, Familial Inverted |
|
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis |
OMIM:118750 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Ataxia, Cerebellar vermis atrophy, Inability to walk, Corpus callosum atrophy, Peripheral axonal ... |
OMIM:619389 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:614322 |
Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Chronic axonal neuropathy, Ataxia |
OMIM:260970 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Progressive cerebellar ataxia, Hypermyelinated retinal nerve fibers, Babinski sign, Diffi... |
ORPHA:98 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Impaired vibration sensation at ank... |
ORPHA:90103 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Ataxia, Inability to walk, Clumsiness, Abnormality of pattern visual evoked potentials, EEG with ... |
ORPHA:1947 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Ataxia, Bradykinesia, Dysmetria, Truncal ataxia, Peripheral axonal neuropathy, Hemiparesis, Optic... |
OMIM:601338 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Cerebral cortical atrophy, Myoclonus, Head tremor, Gait disturbance,... |
OMIM:614860 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
EEG with generalized epileptiform discharges, Optic atrophy, EEG with occipital epileptiform disc... |
OMIM:619323 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Cerebral cortical atrophy, Atrophy/Degeneration affecting the brainstem... |
OMIM:617862 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Inte... |
OMIM:612674 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Clumsiness, Dysmetria, Poor coordination, Ankle clonus, Babinski sign, Tremor, ... |
OMIM:270500 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Myoclonus, Dysdiadochok... |
OMIM:256731 |
Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demy... |
ORPHA:99944 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor |
OMIM:302500 |
Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis, Inability to walk, Demyelinating peripheral neuropathy, Decreased motor nerve con... |
ORPHA:99950 |
Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Hypogonadism, Impaired pai... |
ORPHA:2815 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebral atrophy, Delayed CNS myelination, Babinski sign, Scoliosis, Peripheral axonal neuropathy... |
OMIM:619090 |
Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Abnormality of visual evoked potentials, D... |
ORPHA:96 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Mohr-Tranebjaerg Syndrome |
|
Oromandibular dystonia, Absent brainstem auditory responses, Inability to walk, Ankle clonus, Abn... |
ORPHA:52368 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
Autosomal Recessive Spastic Paraplegia Type 76 |
|
Ataxia, Limb ataxia, Ankle clonus, Babinski sign, Gait ataxia, Lower limb spasticity |
ORPHA:488594 |
X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Clumsiness, Dysmetria, Limb ataxia, Int... |
ORPHA:1175 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Cerebral cortical atrophy, Cerebral atrophy, Abnormality of extrap... |
OMIM:617672 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Peripheral axonal neuropathy, Frequent falls, Tremor, Gait atax... |
OMIM:607317 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Sensory ataxia, Onion bulb formation, Decreased motor nerve c... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Brain atrophy, Onion bulb formation, Scoliosis, Distal senso... |
OMIM:615284 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Cerebral cortical atrophy, Bradykinesia, Resting tremor, Impaired vibratory sensation, Ab... |
OMIM:617225 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Kyphoscoliosis, Inability to walk by childhood/adolescence, Decreased sensory nerve conduction ve... |
OMIM:214400 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Decreased nerve conduction v... |
OMIM:603516 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Demyelinating peripheral neuropathy, ... |
ORPHA:99953 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Optic atrophy... |
OMIM:210000 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Tremor, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decrease... |
OMIM:162400 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Prolonged somatosensory evoked potentials, Myoclonus, Writer's cramp, Tremor, Paroxysmal dystonia |
OMIM:608105 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, R... |
OMIM:603472 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Thoracic scoliosis, Dysmetria, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor,... |
OMIM:610185 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Peripheral axonal neuropathy, Distal sensory impairment, Tremor, Gait ataxia, ... |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Tremor, Gait ataxia, Spasticity, Unsteady gait, Incoordination |
OMIM:213200 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Cerebral cortical atrophy, Poor fine motor coordination, Dysmetria, Brain atr... |
ORPHA:79263 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Cerebral atrophy, Spastic paraparesis, Demyelinating motor neuropathy, Intention tremor, ... |
OMIM:608804 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Optic atrophy, Cerebral atrophy, Truncal ataxia, Cerebellar atrophy |
OMIM:611726 |
Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Sensory axonal neuropathy, Gait ataxia, Cerebellar... |
OMIM:617770 |
Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Leukodystrophy, Myoclonus, Tremor, Spasticity, Cerebellar atrophy, CNS... |
OMIM:616494 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resting ... |
OMIM:607688 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Spastic tetraparesis, Peripheral... |
OMIM:249900 |
Charcot-Marie-Tooth Disease Type 1F |
|
Inability to walk, Limb ataxia, Demyelinating motor neuropathy, Head tremor, Demyelinating sensor... |
ORPHA:101085 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Babinski sign, Distal sensory impairment, Abnormal motor nerve conduction velocity, Spastic gait,... |
ORPHA:100998 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Peripheral axonal neuropathy, Spastic paraplegia,... |
OMIM:610357 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Inability to walk, Abnormal peripheral action potential amplitude, Decreased nerve conduction vel... |
ORPHA:457205 |
Friedreich Ataxia |
|
Ataxia, Decreased sensory nerve conduction velocity, Limb ataxia, Impaired vibratory sensation, A... |
OMIM:229300 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
EEG abnormality, Inability to walk, Cerebral atrophy, Oculogyric crisis, Myoclonus, Hyperkinetic ... |
OMIM:614254 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Parkinsonism, Or... |
ORPHA:454887 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Cerebral atrophy, Babinski sign, Parkinsonism, Rigidity, Falls, Gait... |
OMIM:300423 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Hypertonia, Ataxia, Cerebral atrophy, Cerebellar atrophy, Upper limb spasticity, Lower limb spast... |
OMIM:613925 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Abnormality of visual evoked potentials, Decreased motor nerve conduction velocity, Positive Romb... |
OMIM:601152 |
Dystonia 16 |
|
Torticollis, Bradykinesia, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Unsteady gait, P... |
ORPHA:210571 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Abnormality of visual evoked potentials, Abnormal electroretinogram, Decreased nerve conduction v... |
ORPHA:1933 |
Nescav Syndrome |
|
Cerebellar vermis atrophy, Inability to walk, Cerebral atrophy, Babinski sign, Peripheral axonal ... |
OMIM:614255 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, EEG abnormality, Cerebral atrophy, Neurodegeneration, Optic atrophy, Cerebellar atrophy |
OMIM:610951 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Cerebral atrophy, Ankle clonus, Babinsk... |
ORPHA:521406 |
Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Dystonia |
OMIM:617020 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Scoliosis, Peripheral axonal neuropathy, Optic atrophy, Spasticity, Cerebellar atrophy, S... |
OMIM:617207 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Somatic sensory dysfunction... |
OMIM:600882 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Episodic Kinesigenic Dyskinesia 2 |
|
Paroxysmal dyskinesia, Involuntary movements, Dystonia, Chorea |
OMIM:611031 |
3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Unsteady gait, Impaired vibratory sensation |
ORPHA:139536 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:608029 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... |
OMIM:118220 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Abnormality of extrapyramidal motor function, Athetosis, Dystonia |
OMIM:615159 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Gait disturbance, Involuntary movements, Spasti... |
OMIM:617282 |
Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Gait disturbance, Upper limb spasticity, ... |
OMIM:611225 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Head tremor, Unsteady gait |
OMIM:619988 |
Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Cerebral cortical atroph... |
OMIM:604326 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potentials, Ab... |
ORPHA:35069 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Distal sensory impairment, Optic atrophy, Opti... |
OMIM:617087 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, EEG abnormality, Demyelinating peripheral neuropathy, Dysmetria, Spastic paraparesis, Myo... |
ORPHA:313772 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebral atrophy, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel... |
OMIM:616981 |
Developmental And Epileptic Encephalopathy 69 |
|
EEG abnormality, Inability to walk, Cerebral cortical atrophy, Myoclonus, Hyperkinetic movements,... |
OMIM:618285 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Limb ataxia, Dysmetria, Intention tremor, Cerebellar hypopl... |
OMIM:616127 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Abnormality of visual evoked potentials, Temporal op... |
ORPHA:1215 |
Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal cerebellum morphology, Loss of ambulation, Truncal titubation, Intention tremor, Onion b... |
OMIM:610532 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Upper limb spasticity, Cerebral atrophy, Impaired vibration sensation in the lower limb... |
OMIM:614409 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Clumsiness, Decreased nerve conduction velocity, Tip-toe gait, Abnormality of visual evoked poten... |
ORPHA:309256 |
Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Kyphosis, Bradykinesia, Cerebral atrophy, Ankle clonus, Abnormal pyramidal sign, Scol... |
OMIM:617435 |
Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Dysmetria, Scoliosis, Gait ataxia, Spasticity, Cerebellar atrophy, Dys... |
OMIM:611390 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Ataxia, Decreased nerve conduction velocity, Abnormality of visual evoked potentials, Abnormal py... |
OMIM:256600 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing, Hypsarrhythmia |
OMIM:619561 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Neuronal loss in central nervous system, Bradykinesia, Dysmetria, Limb ... |
OMIM:607136 |
Gordon Holmes Syndrome |
|
Ataxia, Cerebral atrophy, Cerebellar atrophy |
OMIM:212840 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Leukodystrophy, Rigidity, Cerebral hypomyelination, Optic atrophy, Tremor, Choreoathetosi... |
OMIM:612438 |
Spinocerebellar Ataxia Type 2 |
|
Cerebral cortical atrophy, Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Park... |
ORPHA:98756 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Cerebellar hypoplasia, Atrophy/Degeneration affecting the b... |
OMIM:619971 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldin... |
OMIM:118200 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615705 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Inability to walk, Delayed myelination, Myoclonus, Rigidity, Scoliosis, Athetosis, Gait disturban... |
OMIM:618241 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Cerebral atrophy, Dysmetria, Tip-toe gait, Intention tremor, Babi... |
ORPHA:397946 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
EEG with photoparoxysmal response, Motor stereotypy, Ataxia, Inability to walk, Abnormal amplitud... |
ORPHA:168491 |
Parkinson Disease 17 |
|
Akinesia, Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Tremor |
OMIM:614203 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Bradykinesia, Tip-toe gait, Impaired vibratory sensation, Ankle clonus, Babinski sign, Rigidity, ... |
ORPHA:100984 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Babinski sign,... |
OMIM:301310 |
Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616140 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Cerebral atrophy, Dysmetria, Spastic paraparesis, Axonal degeneration, Dysd... |
OMIM:615157 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:613287 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Cerebral cortical atrophy, Cere... |
ORPHA:320391 |
Spinocerebellar Ataxia 1 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Chorea, Optic atrophy,... |
OMIM:164400 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Ataxia, Dysmyelinating leukodystrophy, Dysmetria, Ankle clonus, Dysdiadochokinesis, Babinski sign... |
OMIM:612319 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Ataxia, Inability to walk, Delayed myelination, Cerebral atrophy, Chorea, Involuntary movements, ... |
OMIM:617804 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Hypertonia, EEG abnormality, Abnormality of visual evoked potentials, Abnormal electroretinogram,... |
ORPHA:2971 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
Spinocerebellar Ataxia Type 28 |
|
Limb ataxia, Babinski sign, Rigidity, Parkinsonism, Head tremor, Kinetic tremor, Gait ataxia, Spa... |
ORPHA:101109 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Abnormal cerebellum morphology, Kyphoscoliosis, Upper limb spasticity, Dysmetria, Spastic parapar... |
OMIM:275900 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, De... |
OMIM:616756 |
Spastic Paraplegia 10, Autosomal Dominant |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:604187 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
EEG abnormality, Inability to walk, Dysmetria, Cerebellar hypoplasia, Optic atrophy, Tremor, Gait... |
OMIM:617810 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... |
OMIM:604563 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Cerebral atrophy, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Diffuse cerebellar atrophy, EEG with irregular generalized spike and wave complexes, ... |
ORPHA:352596 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity, Babinski sign |
OMIM:605726 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Clumsiness, Decreased nerve conduction velocity, Intention tremor, Abnormality of visual evoked p... |
ORPHA:309263 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
Neurodegeneration With Brain Iron Accumulation |
|
Rigidity, Chorea, Optic atrophy, Spasticity, Cerebellar atrophy, Dystonia, Abnormality of extrapy... |
ORPHA:385 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... |
OMIM:619028 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Peripheral axonal neuropathy, Optic atrophy, Difficulty walking, Progressive spast... |
ORPHA:468661 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Ataxia, Cerebral atrophy, Leukodystrophy, Abnormal pyramidal sign, Scoliosis, Head titubation, Pr... |
ORPHA:527497 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Scoliosis, ... |
OMIM:618218 |
Pontocerebellar Hypoplasia, Type 2D |
|
Delayed myelination, Cerebral atrophy, Chorea, Spastic tetraplegia, Cerebellar atrophy, Clonus |
OMIM:613811 |
Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Truncal ataxia, Chorea, Athetosis, Choreoathetosis, Incoordination |
OMIM:130950 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Extrapyramidal muscular rigidity, Dysmetria, Babinski sign, Sco... |
ORPHA:93952 |
Leukodystrophy, Hypomyelinating, 21 |
|
Failure to thrive, Ataxia, Corpus callosum atrophy, Tetraparesis, Athetosis, Optic atrophy, Cereb... |
OMIM:619310 |
Spinocerebellar Ataxia 49 |
|
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Sensory axonal neuropat... |
OMIM:619806 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive cerebellar ataxia, Babinski sign, Truncal ataxia, Optic atrophy, Tremor, Difficulty w... |
ORPHA:137898 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Spasticity, Dystonia, ... |
OMIM:617829 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Hypertonia, Ataxia, Delayed myelination, Cerebral hypomyelination, Chorea, Opti... |
ORPHA:79097 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Decreased number of large peripheral myelinated nerve fibers, Limb at... |
OMIM:208920 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity |
OMIM:616719 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Difficulty... |
ORPHA:401820 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Abnormal nervous system electrophysiology, Cerebral atrophy, Myoclonus, Increased extrane... |
OMIM:204500 |
Spinocerebellar Ataxia Type 11 |
|
Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Dystonia |
ORPHA:98767 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Distal se... |
OMIM:256840 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Postural tremor |
OMIM:606658 |
Infantile Cerebellar-Retinal Degeneration |
|
Failure to thrive, Ataxia, Decreased body weight, Cerebral cortical atrophy, Demyelinating periph... |
OMIM:614559 |
Microcephaly, Seizures, And Developmental Delay |
|
Ataxia, Cerebellar atrophy |
OMIM:613402 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the seventh cranial nerve, Abnormal peripheral action potential amplitude, Inabili... |
ORPHA:90117 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
OMIM:609161 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Neuronal loss in central nervous system, Blepharospasm, Cerebellar Purkinje ... |
ORPHA:98759 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Peripheral axonal neuropathy, Decreased nerve conduction velocity, P... |
ORPHA:101082 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Torticollis, Cerebral atrophy, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:618369 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, Cerebellar hyp... |
OMIM:224050 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Scoliosis, Brain atrophy, Cerebellar atrophy |
OMIM:618741 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Myoclonus, Cr... |
OMIM:617284 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sign, Dilated fourth... |
OMIM:614831 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Ataxia, Upper motor neuron dysfunction, Progressive cerebellar ataxia |
ORPHA:3177 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Gait ataxia, Inability to walk, Cerebellar atrophy |
OMIM:617915 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Limb ataxia, Leukodystrophy, Abnormal pyramidal sign, Truncal ataxia, Head titubatio... |
OMIM:617560 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, Cerebral atrophy, EEG with focal epileptiform discharges, Myoclonu... |
ORPHA:263516 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
EEG abnormality, Clumsiness, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Ce... |
OMIM:610003 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, EEG abnormality, Myoclonus, Babinski sign, Hemiparesis, Paroxysmal lethargy, Choreoatheto... |
OMIM:606777 |
Metachromatic Leukodystrophy, Adult Form |
|
Clumsiness, Decreased nerve conduction velocity, Orthostatic hypotension due to autonomic dysfunc... |
ORPHA:309271 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Cerebral atrophy, Peripheral axonal neuropathy, Distal sensory impairment, Cerebellar atr... |
OMIM:607250 |
Pontocerebellar Hypoplasia, Type 1E |
|
Myoclonus, Hypoplasia of the pons, Cerebellar hypoplasia, EEG with burst suppression, Optic atrop... |
OMIM:619303 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Dystonia, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Postural tremo... |
ORPHA:100988 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Cerebral cortical atrophy, Demyelinating peripheral neuropathy, Limb ataxia, Hand tremor,... |
OMIM:607596 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormal cerebellum morphology, Ataxia, Myoclonus, Parkinsonism, Increased neuronal autofluoresce... |
OMIM:162350 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Failure to thrive, Ataxia, Dysmetria, Optic disc pallor, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:617954 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Kyphosis, Cerebral cortical atrophy, Dysmetria, Intention tremor... |
ORPHA:48431 |
Optic Atrophy 1 |
|
Optic atrophy, Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials |
OMIM:165500 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Cerebral cortical atrophy, Spastic ataxia, Dysmetria, Impaired vibration sensation in the lower l... |
OMIM:607259 |
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Rubcn Deficiency |
|
Gait ataxia, Limb ataxia |
ORPHA:404499 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Leukodystrophy, Hypomyelinating, 15 |
|
Failure to thrive, Ataxia, Loss of ambulation, Cerebral atrophy, Intention tremor, Leukodystrophy... |
OMIM:617951 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Cerebral atrophy, Spastic paraparesis, Abnormal autonomic nervous system physiology... |
OMIM:300894 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait |
ORPHA:284271 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, EEG abnormality, Hand tremor |
ORPHA:86814 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... |
OMIM:605361 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait |
OMIM:619405 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
Developmental And Epileptic Encephalopathy 47 |
|
EEG abnormality, Inability to walk, Limb ataxia, Gait disturbance, Optic disc pallor, Cerebellar ... |
OMIM:617166 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Torticollis, Impaired vibratory sensation, Babinski sign, Peripheral axonal neuropathy, Spastic p... |
OMIM:619686 |
Rapid-Onset Dystonia-Parkinsonism |
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Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Cere... |
ORPHA:71517 |
Peroxisome Biogenesis Disorder 8B |
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Failure to thrive, Ataxia, Cerebellar vermis atrophy, Spastic paraparesis, Dysmetria, Leukodystro... |
OMIM:614877 |
Pelizaeus-Merzbacher Disease |
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Ataxia, Abnormality of visual evoked potentials, Optic atrophy, Gait disturbance, Choreoathetosis... |
ORPHA:702 |
Dystonia 13, Torsion, Autosomal Dominant |
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Torticollis, Oromandibular dystonia, Blepharospasm, Tremor, Writer's cramp, Limb dystonia, Torsio... |
OMIM:607671 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Sensory axonal neuropathy, Gait disturbance, ... |
ORPHA:98764 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
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Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:615386 |
Krabbe Disease |
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Hypertonia, Failure to thrive, EEG abnormality, Decreased nerve conduction velocity, Decerebrate ... |
OMIM:245200 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
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Ataxia, Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy, Gait dist... |
OMIM:125250 |
Spinocerebellar Ataxia 25 |
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Ataxia, Abolished vibration sense, Babinski sign, Scoliosis, Decreased number of peripheral myeli... |
OMIM:608703 |
Developmental And Epileptic Encephalopathy 44 |
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Failure to thrive, Delayed myelination, Cerebral atrophy, Athetosis, Spasticity, Cerebellar atrop... |
OMIM:617132 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
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Progressive cerebellar ataxia, Impaired vibration sensation in the lower limbs, Babinski sign, Ab... |
ORPHA:352641 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
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Ataxia, Cerebral cortical atrophy, Peripheral axonal neuropathy, Optic atrophy, Difficulty walkin... |
OMIM:619425 |
Leukodystrophy, Hypomyelinating, 17 |
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Kyphoscoliosis, Inability to walk, Cerebral atrophy, Leukodystrophy, Cerebellar atrophy, Hypsarrh... |
OMIM:618006 |
Hereditary Methemoglobinemia |
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Hypertonia, Temporal cortical atrophy, Frontal cortical atrophy, Delayed myelination, Small for g... |
ORPHA:621 |
Huntington Disease |
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Neuronal loss in central nervous system, Bradykinesia, Rigidity, Chorea, Gait ataxia, Cerebellar ... |
OMIM:143100 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
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Decreased body weight, Sensory ataxia, Cerebral atrophy, Demyelinating peripheral neuropathy, Bab... |
ORPHA:445062 |
Optic Atrophy With Demyelinating Disease Of Cns |
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Optic atrophy, Ataxia, Hemiparesis, Peripheral demyelination |
OMIM:165200 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
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Ataxia, Loss of ambulation, Cerebral cortical atrophy, Dysmetria, Leukodystrophy, Babinski sign, ... |
OMIM:607694 |
Mental Retardation, X-Linked 82 |
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Kyphosis, EEG abnormality, Scoliosis |
OMIM:300518 |
Autosomal Recessive Ataxia, Beauce Type |
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Chronic axonal neuropathy, Ataxia, Upper motor neuron dysfunction, Clumsiness, Kyphosis, Dysmetri... |
ORPHA:88644 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Chronic axonal neuropathy, Limb ataxia, Pontocerebellar atrophy, Decreased motor nerve conduction... |
OMIM:606002 |
Sialidosis Type 1 |
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Kyphosis, Ataxia, EEG abnormality, Decreased nerve conduction velocity, Myoclonus, Scoliosis, Abn... |
ORPHA:812 |
Huntington Disease-Like 1 |
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Clumsiness, Bradykinesia, Poor fine motor coordination, Dysmetria, Simultanapraxia, Chorea, Frequ... |
ORPHA:157941 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
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Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... |
OMIM:606183 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
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Failure to thrive, Ataxia, Brain atrophy, Leukodystrophy, Babinski sign, Optic atrophy, Cerebella... |
OMIM:618226 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Limb... |
OMIM:117360 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Failure to thrive, Cerebral cortical atrophy, Decreased nerve conduction velocity, Spastic parapa... |
OMIM:238970 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Inability to walk, Oculogyric crisis, Scoliosis, Optic atrophy, Tremor, Difficulty walking, Diffu... |
ORPHA:330050 |
Friedreich Ataxia |
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Gait imbalance, Inability to walk, Poor fine motor coordination, Limb ataxia, Dysmetria, Intentio... |
ORPHA:95 |
Spinocerebellar Ataxia 34 |
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Ataxia, Cerebral cortical atrophy, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal py... |
OMIM:133190 |
Spastic Paraplegia 48, Autosomal Recessive |
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Broad-based gait, Ataxia, Dysmetria, Parkinsonism, Spastic paraplegia, Spastic gait, Lower limb s... |
OMIM:613647 |
Charcot-Marie-Tooth Disease, Dominant Intermediate G |
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Ataxia, Babinski sign, Distal sensory impairment, Gait disturbance, Spasticity, Waddling gait, St... |
OMIM:617882 |
Autosomal Recessive Spastic Paraplegia Type 25 |
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Paraparesis, Abnormal lumbar spine morphology, Spastic paraplegia, Cervical spondylosis, Abnormal... |
ORPHA:101005 |
Multifocal Motor Neuropathy |
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Fasciculations, Motor conduction block |
ORPHA:641 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
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Choreoathetosis, Abnormality of extrapyramidal motor function, Cerebellar atrophy |
OMIM:301020 |
Ataxia-Oculomotor Apraxia 4 |
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Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia |
OMIM:616267 |
Spinocerebellar ataxia 27 |
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Ataxia, Limb ataxia, Impaired vibratory sensation, Head tremor, Truncal ataxia, Sensory axonal ne... |
OMIM:609307 |
Metachromatic Leukodystrophy |
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Ataxia, Decreased nerve conduction velocity, Babinski sign, Chorea, Gait disturbance, Optic atrop... |
OMIM:250100 |
Spastic Paraplegia 79, Autosomal Recessive |
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Ataxia, Cerebral atrophy, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Neurodegenera... |
OMIM:615491 |
Urocanase Deficiency |
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Tremor, Ataxia |
OMIM:276880 |
Spinocerebellar Ataxia 42 |
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Loss of Purkinje cells in the cerebellar vermis, Ataxia, Impaired vibration sensation at ankles, ... |
OMIM:616795 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
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Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... |
ORPHA:139485 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
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Inability to walk, Optic atrophy, Spasticity, Cerebellar atrophy, Hypsarrhythmia |
OMIM:617086 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Ataxia, Kyphoscoliosis, Peripheral hypomyelination, Cerebral atrophy, Axonal degeneration, Decrea... |
OMIM:604168 |
Developmental And Epileptic Encephalopathy 40 |
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Cerebral cortical atrophy, Small for gestational age, Myoclonus, Choreoathetosis, Spasticity, Hyp... |
OMIM:617065 |
Familial Dyskinesia And Facial Myokymia |
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Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
Combined Oxidative Phosphorylation Defect Type 39 |
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