Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Hand muscle weakness, ... |
OMIM:302800 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Foot dorsiflexor weakn... |
OMIM:614436 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p... |
OMIM:208920 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
ORPHA:90103 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... |
OMIM:611105 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... |
ORPHA:497764 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Decreased... |
OMIM:214400 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Upper limb muscle weakness, Steppage gait, Gait d... |
OMIM:616155 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired temperature sensation, Hand muscle weakness, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:99947 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Decreased circulating antibody lev... |
ORPHA:2572 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Unsteady gait, Babinski sign, Dysmetria,... |
ORPHA:1175 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Spastic Paraplegia 2, X-Linked |
|
Lower limb spasticity, Skeletal muscle atrophy, Degeneration of the lateral corticospinal tracts,... |
OMIM:312920 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Nescav Syndrome |
|
Cerebellar atrophy, Appendicular spasticity, Peripheral axonal neuropathy, Ataxia, Inability to w... |
OMIM:614255 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Acute rhabdomy... |
OMIM:604168 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, D... |
OMIM:618276 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Abnormal cortical... |
ORPHA:98756 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Clonus, Axonal degeneration, Distal amyotrophy, Falls, Tongue fasciculations... |
OMIM:618811 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Peripheral axonal neuropathy, Lower limb spasticity, Ataxi... |
OMIM:619389 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Resting tremor, A... |
OMIM:617225 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Foot dorsiflexor weakness, Axonal degenera... |
OMIM:620011 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... |
ORPHA:139578 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Gait ataxia, Focal dystonia, Progressive cerebellar ataxia, Attent... |
OMIM:605361 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Progressive neurologic deterioration, Truncal ataxia, Limb ataxia, Choreoathe... |
OMIM:616230 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... |
OMIM:618387 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic parapleg... |
OMIM:610357 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Confusion, Tremor, Babinski sign, Gait atax... |
OMIM:615362 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... |
OMIM:617207 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Impaired distal proprioception, Hand mus... |
ORPHA:101097 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Neurodegeneration, Mental deterioration |
OMIM:610951 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Ataxia, Impaired distal proprioception, Cerebellar vermis atrophy, Impaired v... |
ORPHA:94124 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neu... |
OMIM:607250 |
Autosomal Dominant Spastic Paraplegia Type 38 |
|
Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Peroneal muscle atrophy,... |
ORPHA:171617 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Mental deterioration |
OMIM:616187 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Fal... |
ORPHA:363710 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Decreased distal sensory nerve a... |
OMIM:601098 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Broad-based gait, Ataxia, Confusion, Parkinsonism, ... |
OMIM:607136 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Peripheral axonal neuropathy, Torticollis, Lowe... |
OMIM:619686 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Dementia... |
OMIM:619806 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Lateral ventricle dilatation, D... |
OMIM:615889 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... |
ORPHA:98759 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Peripheral demyelination, Inability to walk, Chorea, Ri... |
OMIM:617672 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Lower limb muscle weakness, Degeneration of the lateral corticospi... |
ORPHA:100989 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... |
OMIM:618088 |
Spinocerebellar Ataxia Type 1 |
|
Skeletal muscle atrophy, Chorea, Impaired proprioception, Dysmetria, Abnormal nerve conduction ve... |
ORPHA:98755 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Impaired vibration sensation in the lower limbs, Dysmetria, Gait ataxia, Upper limb muscle weakne... |
OMIM:607259 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:612319 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Simplified gyral pattern, Dysmetria, Gait ataxia, Dysdiadoc... |
OMIM:224050 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Lower limb spasticity, Lower limb muscle weakne... |
OMIM:614409 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Ba... |
OMIM:210000 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Distal lower limb amyotrophy, Corpus callosum atrophy, Impaired distal vibrat... |
OMIM:616680 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red musc... |
ORPHA:254886 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Dystonia, Babinski sig... |
ORPHA:513436 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100999 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Dysmetria, Gait ... |
OMIM:617145 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia... |
ORPHA:320391 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Impaired vibration sensati... |
OMIM:607565 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve... |
OMIM:604320 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
ORPHA:521406 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Optic disc pallor, Incoordination, Ataxia, Babinski sign, Flexion contracture... |
OMIM:616204 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotempora... |
ORPHA:412066 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impai... |
OMIM:619028 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Short attention span, Loss of ability to walk in early childhood, Ataxia, Unsteady gait, Optic at... |
ORPHA:401866 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysme... |
OMIM:600224 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Clumsiness, Spasticity, Intention tremor |
OMIM:608029 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... |
OMIM:614487 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171863 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Babinski sign, Optic atrophy,... |
ORPHA:99013 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Foot dorsiflexor w... |
ORPHA:98 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Dystonia, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Cho... |
ORPHA:79263 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Chorea, Froment sign, Myoclonus, Head tremor, Apraxi... |
OMIM:620158 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Difficulty walking, Cere... |
OMIM:619425 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Tremor, Abnormal pyramidal sign, Loss of ambulation, Abnormal lower motor neuron morphology, Scap... |
OMIM:614298 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal cer... |
ORPHA:909 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Chorea, Impaired propriocepti... |
OMIM:164400 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign, Sensory axonal ne... |
OMIM:617770 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Distal amyotrophy, Spinocerebellar... |
OMIM:183090 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Distal amyotrophy, Gait di... |
OMIM:612020 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Dementia, Neuronal loss in centr... |
OMIM:143100 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... |
OMIM:162100 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:171612 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Skeletal muscle atrophy, Absent brainstem auditory responses, Hand muscle we... |
ORPHA:101085 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Ocu... |
ORPHA:208513 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Hoffmann sign, Impaired proprioception, Flexion contracture, Dysmetria, Loss of ambulation, Inten... |
OMIM:615491 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Babins... |
ORPHA:139480 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... |
OMIM:278800 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, ... |
OMIM:618093 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Impaired vibration sensation ... |
OMIM:270550 |
Superficial Siderosis |
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Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Lowe... |
ORPHA:247245 |
Neurodegeneration With Brain Iron Accumulation 5 |
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Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
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Cerebellar atrophy, Peripheral axonal neuropathy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria... |
ORPHA:313772 |
Machado-Joseph Disease |
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Cerebellar atrophy, Impaired vibratory sensation, Dilated fourth ventricle, Dystonia, Ataxia, Par... |
OMIM:109150 |
Autosomal Spastic Paraplegia Type 58 |
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Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
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Cerebellar atrophy, Limb dystonia, Torticollis, Head titubation, Abnormal pyramidal sign, Limb at... |
OMIM:617560 |
Spastic Ataxia 3, Autosomal Recessive |
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Cerebellar atrophy, Spastic ataxia, Ataxia, Dysmetria, Gait ataxia, Cognitive impairment, Dystoni... |
OMIM:611390 |
X-Linked Cerebral Adrenoleukodystrophy |
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Hoffmann sign, Dysmetria, Ataxia, Confusion, Hamstring contractures, Gait disturbance, Oculomotor... |
ORPHA:139396 |
Boucher-Neuhauser Syndrome |
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Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
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Cerebellar atrophy, Impaired distal proprioception, Impaired distal vibration sensation, Unsteady... |
OMIM:617633 |
Machado-Joseph Disease Type 3 |
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Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia, ... |
ORPHA:276244 |
Spinocerebellar Ataxia 29 |
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Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Spinocerebellar Ataxia 10 |
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Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... |
OMIM:603516 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
Autosomal Recessive Ataxia, Beauce Type |
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Cerebellar atrophy, Short attention span, Chronic axonal neuropathy, Impaired vibratory sensation... |
ORPHA:88644 |
Spinocerebellar Ataxia Type 18 |
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Cerebellar atrophy, Skeletal muscle atrophy, Peripheral axonal neuropathy, Somatic sensory dysfun... |
ORPHA:98771 |
Null Syndrome |
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Ataxia, Decreased nerve conduction velocity, Inability to walk, Abnormal cerebellum morphology, O... |
ORPHA:280234 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
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Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
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Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Juvenile Amyotrophic Lateral Sclerosis |
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Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... |
ORPHA:300605 |
Machado-Joseph Disease Type 1 |
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Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Distal lower limb amyotrop... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Cerebellar atrophy, Dilated fourth ventricle, Skeletal muscle atrophy, Distal lower limb amyotrop... |
ORPHA:276241 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Ataxia With Vitamin E Deficiency |
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Cerebellar atrophy, Ataxia, Tendon xanthomatosis, Impaired proprioception, Dysmetria, Clumsiness,... |
OMIM:277460 |
Autosomal Dominant Spastic Paraplegia Type 12 |
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Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Babinski sign, I... |
ORPHA:100993 |
Neurodegeneration With Brain Iron Accumulation 3 |
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Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
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Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Achilles tendon contracture, Bab... |
OMIM:612674 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
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Psychomotor deterioration, Deficit in phonologic short-term memory, Skeletal muscle atrophy, Abno... |
ORPHA:329336 |
Ataxia-Telangiectasia-Like Disorder 1 |
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Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia,... |
OMIM:604391 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
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Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Dentatorubral Pallidoluysian Atrophy |
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Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Oromandibu... |
ORPHA:101 |
Fragile X Tremor/Ataxia Syndrome |
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Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Spinocerebellar Ataxia 34 |
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Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Broad-based gait, Fl... |
OMIM:609033 |
Autosomal Dominant Spastic Paraplegia Type 41 |
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Lower limb spasticity, Degeneration of the lateral corticospinal tracts, Hand muscle weakness, Sp... |
ORPHA:320355 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
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Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
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Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Dyst... |
OMIM:606002 |
Spinocerebellar Ataxia 21 |
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Cerebellar atrophy, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
O'Sullivan-Mcleod Syndrome |
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Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak... |
ORPHA:99965 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Demen... |
OMIM:137440 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Ataxia-Oculomotor Apraxia 3 |
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Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Dysmetria, Distal sensory impairment, D... |
OMIM:615217 |
Fatty Acid Hydroxylase-Associated Neurodegeneration |
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Cerebellar atrophy, Generalized dystonia, Atrophy of the spinal cord, Progressive spastic parapar... |
ORPHA:329308 |
Spinocerebellar Ataxia 6 |
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Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Abnormal cerebellum... |
ORPHA:447753 |
Spinocerebellar Ataxia Type 19/22 |
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Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
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Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Neurodegeneration With Brain Iron Accumulation 2B |
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Cerebellar atrophy, Short attention span, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy,... |
OMIM:610217 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
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Cerebellar atrophy, Decreased motor nerve conduction velocity, Babinski sign, Cerebral atrophy, G... |
OMIM:616192 |
Spinocerebellar Ataxia 15 |
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Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
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Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
Autosomal Recessive Spastic Paraplegia Type 35 |
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Dysmetria, Foot dorsiflexor weakness, Cognitive impairment, Oculomotor apraxia, Cerebellar atroph... |
ORPHA:171629 |
Ataxia-Oculomotor Apraxia 4 |
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Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Abnormal pyramidal sign, Tetr... |
OMIM:616267 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
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Cerebellar dysplasia, Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Spinocerebellar Ataxia Type 8 |
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Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Hypoplasia of the pons, Rigidity, Unste... |
ORPHA:98760 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
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Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Neck muscle hyper... |
ORPHA:420492 |
Secondary Syringomyelia |
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Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens... |
ORPHA:99857 |
Multiple System Atrophy 1, Susceptibility To |
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Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
Foix-Alajouanine Syndrome |
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Hyperintensity of MRI T2 signal of the spinal cord, Distal lower limb amyotrophy, Somatic sensory... |
ORPHA:79093 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
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Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Arachnoid Cyst |
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Facial palsy, Spinal cord compression, Inability to walk, Cranial nerve compression, Spinal arach... |
ORPHA:2356 |
Angioedema, Hereditary, 1 |
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Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment, C... |
OMIM:609242 |
Acute Disseminated Encephalomyelitis |
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Somatic sensory dysfunction, Ataxia, Confusion, Involuntary movements, Abnormal cerebellum morpho... |
ORPHA:83597 |
Cysticercosis |
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Calcification of muscles, Somatic sensory dysfunction, Ataxia, Confusion, Spinal arachnoid cyst, ... |
ORPHA:1560 |
Keratoderma Hereditarium Mutilans |
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Abnormal spinal cord morphology, Cognitive impairment |
ORPHA:494 |
Amoebiasis Due To Free-Living Amoebae |
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Myocardial necrosis, Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Confusion, Abno... |
ORPHA:68 |
Friedreich Ataxia 2 |
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Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Ataxia, Abnorm... |
OMIM:601992 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
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Unsteady gait, Gait ataxia |
OMIM:618292 |
Spinal Arteriovenous Metameric Syndrome |
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Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Solitary Bone Cyst |
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Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Primary Sjögren Syndrome |
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Somatic sensory dysfunction, Myositis, Abnormality of the peripheral nervous system, Abnormal cer... |
ORPHA:289390 |
Tetrasomy 9P |
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Myositis, Abnormal spinal cord morphology, Lissencephaly, Pachygyria, Polymicrogyria, Dandy-Walke... |
ORPHA:3310 |
Limb Body Wall Complex |
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Diastasis recti, Congenital diaphragmatic hernia, Spina bifida, Abnormal spinal cord morphology, ... |
ORPHA:2369 |
Mosaic Trisomy 20 |
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Abnormal spinal cord morphology |
ORPHA:1724 |