| Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Babinski sign, Cerebellar atrophy, H... |
OMIM:302800 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Myopathy, Type 1 muscle fiber predominance, Ragged-red muscle fibers, Favorable response of weakn... |
ORPHA:353327 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Spastic ataxia, Progressive spastic paraparesis, Spastic tetra... |
ORPHA:496756 |
| Spinocerebellar Ataxia 43 |
|
Rigidity, Distal sensory impairment, Ataxia, Tremor, Cerebellar vermis atrophy, Limb ataxia, Gait... |
OMIM:617018 |
| Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Gait disturbance, Skeletal muscle hypertrophy, Impaired pain sensation, Kyphosis, ... |
ORPHA:99014 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysplastic corpus callosum, Failure to thr... |
OMIM:618276 |
| Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 6 |
|
Steppage gait, Hand tremor, Somatic sensory dysfunction |
OMIM:300905 |
| Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Skeletal muscle atrophy, Upper limb spasticity, Lower limb spast... |
OMIM:611225 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Dys... |
OMIM:606183 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Ankle flexion contracture, Babinski sign, Spastic gait, Knee flexion contracture, Impaired vibrat... |
ORPHA:320370 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Decreased nerve conduction velocity, Paraparesis, Distal sensory impairment, Upper... |
OMIM:302802 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy, Gait ataxia |
OMIM:618369 |
| Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Leg... |
ORPHA:101010 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... |
ORPHA:275872 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Cerebellar cyst, Cerebellar atrophy, Frequent falls, Facial diplegia, Kyphos... |
ORPHA:370980 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Paroxysmal dystonia, Choreoathetosis, Myoclonus, Paroxysmal lethargy, H... |
OMIM:606777 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... |
ORPHA:94122 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unsteady g... |
OMIM:213200 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Dystonia, Central apnea, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia... |
ORPHA:71277 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spasticity, Babinski sign, Abnormal pons morphology, Impaired vibration sensation in ... |
ORPHA:171622 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Cerebral at... |
OMIM:611252 |
| Mast Syndrome |
|
Gait disturbance, Babinski sign, Apraxia, Spastic paraplegia, Lower limb muscle weakness, Spastic... |
OMIM:248900 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in lower limbs, Gait disturba... |
ORPHA:101077 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Cerebellar atrophy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
| Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Gliosis, Positive Romberg s... |
OMIM:607136 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Respiratory distress |
OMIM:619099 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Cerebellar h... |
OMIM:615768 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis, Difficulty walking |
OMIM:608634 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Gliosis, Extrapyramidal dyskinesia, Parap... |
OMIM:105550 |
| Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Degeneration of the lateral corticospinal tracts, Babinski sign, Skeletal muscle a... |
OMIM:312920 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Skeletal muscle atrophy, Leukoencephalopathy, Tremor, Ataxia, Flexion contracture,... |
OMIM:611105 |
| Lissencephaly 3 |
|
Lissencephaly, Spastic tetraplegia, Cerebellar vermis hypoplasia, Ataxia, Pachygyria, Polymicrogy... |
OMIM:611603 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Optic atrophy, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia, Spa... |
OMIM:618572 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention trem... |
ORPHA:284332 |
| Behr Syndrome |
|
Progressive spasticity, Babinski sign, Optic atrophy, Cerebellar atrophy, Gait disturbance, Dysme... |
OMIM:210000 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Optic atrophy, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... |
OMIM:270500 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Skeletal muscle atrophy, Simplified gyral pattern, Ataxia, Progressive microc... |
OMIM:613402 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Limb fasciculations, Cough, Distal sensory impairment, Tremor, Abnormal peripheral action potenti... |
ORPHA:90117 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Central sleep apnea, Tremor,... |
ORPHA:79262 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Cerebellar atrophy, Slurred speech, Incoordination |
ORPHA:98766 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Foca... |
ORPHA:240103 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Aplasia/Hypoplasia of the cereb... |
ORPHA:401820 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Dysmetria, Torticollis, Intention trem... |
ORPHA:276193 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Giant somatosensory evoked potentials, Myoclonus, Intention tremor,... |
OMIM:618876 |
| Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
| Microlissencephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified... |
ORPHA:1083 |
| Myasthenic Syndrome, Congenital, 15 |
|
Multiple joint contractures, Difficulty walking, Fatigable weakness, Frequent falls |
OMIM:616227 |
| Lissencephaly 1 |
|
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Agyria, Cerebellar hypoplasia, Ab... |
OMIM:607432 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Dystonia, Babinski sign, Cerebellar atrophy, Scissor gait, Hyperintensity of cerebral white matte... |
ORPHA:521406 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Myoclonus, Gliosis, Loss of Purkinje cells in the cerebellar vermis, Hype... |
OMIM:225753 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Distal amyotrophy, Dysmetr... |
OMIM:275900 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Dystonic gait, Failure to thrive, Abnormal morphology of musculature of pharynx, Gliosis, Lower l... |
ORPHA:280210 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal vertebral morphology, Abnormal corpus callosum morpho... |
OMIM:618709 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal amyotrophy, Gait disturbance, Hand tremor, Gliosis, Fasciculations, Distal sensory impai... |
OMIM:604484 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Cerebellar cyst, Shoulder girdle muscle atrophy, Vertebral fusion, Achilles ... |
OMIM:606612 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Tremor, Babinski sign, Gait disturbance, Spastic paraplegia |
OMIM:300660 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Kyphosis, Distal sensory impairment, Foot dorsiflexor weakness,... |
OMIM:617087 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gliosis, Bradykinesia, Gait ataxia |
OMIM:143100 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Tongue fasciculations, Abnorma... |
ORPHA:99 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Leukoencephalopathy, Distal sensory impairment, Ata... |
OMIM:618387 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Babinski sign, Cerebellar atrophy, Knee clonus, Upper limb spasticity, Limb... |
OMIM:614409 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Tremor, Ataxia... |
ORPHA:101075 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617769 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Gait disturbance, Ragged-red muscle fibers, EMG: myopath... |
ORPHA:276435 |
| Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
| Hypermanganesemia With Dystonia 2 |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Babinski sign, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
| Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Limb muscle weakness, Dysmetria, Prog... |
OMIM:607458 |
| Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Impaired vibration sensation in the lower limbs, Tr... |
OMIM:610245 |
| Nemaline Myopathy 2 |
|
Slender build, Calf muscle pseudohypertrophy, Gait disturbance, Weakness of facial musculature, A... |
OMIM:256030 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Cerebellar atrophy, Spastic tetraplegia, Ataxia, Spasticity, Distal amyotrophy, Sp... |
OMIM:617207 |
| Myopathy, Distal, With Rimmed Vacuoles |
|
Z-band streaming, Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Steppage ... |
OMIM:617158 |
| Hemimegalencephaly |
|
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Myoclonus, Gliosis, Hemiparesis, P... |
ORPHA:99802 |
| Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Torticollis, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
| Gne Myopathy |
|
Abnormal right hemidiaphragm morphology, Steppage gait, Lower limb amyotrophy, Hip flexor weaknes... |
ORPHA:602 |
| Huntington Disease-Like 1 |
|
Clumsiness, Gait disturbance, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetri... |
ORPHA:157941 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia, Respiratory insuffi... |
ORPHA:640 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Spastic ataxia, Fa... |
OMIM:611302 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Skeletal m... |
ORPHA:3115 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Idiopathic Camptocormia |
|
Abnormal pons morphology, Spinal canal stenosis, Abnormal intervertebral disk morphology, Dystoni... |
ORPHA:1320 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Machado-Joseph Disease |
|
Dystonia, Babinski sign, Cerebellar atrophy, Rigidity, Dilated fourth ventricle, Gliosis, Abnorma... |
OMIM:109150 |
| Childhood-Onset Nemaline Myopathy |
|
Clumsiness, Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Fatigable ... |
ORPHA:171439 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Spastic gait, Spastic dysarthria, Lower limb sp... |
ORPHA:251282 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Progressive cerebellar ataxia, Difficulty walking, Abnormal pyramidal sign |
ORPHA:85292 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Partial agenesis of the corpus callosum, Cerebellar cyst, Basal ganglia necrosis, Dystonia, Small... |
ORPHA:79243 |
| Autosomal Recessive Spastic Paraplegia Type 74 |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Cerebral white matter atrophy, Distal amyotroph... |
ORPHA:468661 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Truncal ataxia |
OMIM:615268 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Rigidity, Falls, Bradykinesia, Tremor, Respiratory distress, Parkinsonism with favorabl... |
ORPHA:240085 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Fasciculations, Distal sensory impairment, Tremor, Calf muscle hypertrop... |
OMIM:615048 |
| Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Difficulty walking, Decreased motor nerve conduction velocity |
OMIM:605285 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gait disturbance, Small for gestational age, Increased body ma... |
OMIM:300957 |
| Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
| Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable wea... |
OMIM:603034 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Skeletal muscle hypertrophy, Spinal deformities, Reduced muscle fiber alpha dystroglycan, Cerebel... |
ORPHA:370968 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... |
OMIM:607483 |
| Kufor-Rakeb Syndrome |
|
Gait disturbance, Dystonia, Babinski sign, Rigidity, Torticollis, Myoclonus, Bradykinesia, Leg mu... |
OMIM:606693 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Failure to thrive, Myoclonus, Ataxia, Hypertonia, Respiratory distress, Spast... |
OMIM:618426 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Difficulty walking, Lethargy |
OMIM:613710 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Dystonia, Babinski sign, Distal amyotrophy, Frequent falls, Myoclonus, Fasciculations, Tremor, At... |
OMIM:607317 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Lissencephaly, Spastic tetraplegia, Pachygyria, Agyria, Gray matter... |
OMIM:615411 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Torticollis, Focal dystonia, Stereotypy, Cranio... |
ORPHA:98807 |
| Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Spastic para... |
ORPHA:726 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Oromandibular dystonia, Focal dystonia, Laryngeal dystonia, Actio... |
ORPHA:464440 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Limb ataxi... |
ORPHA:98763 |
| Spastic Paraplegia 45, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Dysplastic corpus callosum, Spastic gait, Lower limb spasticity, Fl... |
OMIM:613162 |
| Neurodegeneration With Brain Iron Accumulation |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal moto... |
ORPHA:385 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Dystonia, Myoclonus, Involuntary movements |
OMIM:611092 |
| Primary Dystonia, Dyt4 Type |
|
Involuntary movements, Gait disturbance, Torticollis, Eunuchoid habitus, Laryngeal dystonia, Resp... |
ORPHA:98805 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Central core regions in muscle fibers, Optic atrophy, Dystonia, Involuntary movements, Progressiv... |
ORPHA:401768 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Optic atrophy, Spastic paraparesis, Babinski sign, Spastic ataxia |
OMIM:613672 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:615957 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Gait disturbance, Z-band streaming, Autophagic vacuoles, Internally nucleated skeletal muscle fib... |
OMIM:618655 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebellar atrophy, Stereotypy |
OMIM:617862 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... |
ORPHA:101078 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Diaphragmatic paralysis, Respiratory insufficiency, Failure to thrive, Facial palsy, Respiratory ... |
OMIM:614399 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... |
OMIM:300423 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Babinski sign, Dystonia, Writer's cramp, Torticollis, Bradykinesia, Cogwheel rig... |
OMIM:128230 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Spastic tetraplegia, Periventricular ribbonlike heterotopia, Thick cerebr... |
OMIM:618677 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spastic parapleg... |
OMIM:612936 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Generalized limb muscle atrophy, Focal T2 hyperintense basal ganglia lesion, Paraparesis, Frontal... |
ORPHA:2822 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Frequent falls, Dysmetria, Spastic dysarthria, Progressive gait ataxia... |
ORPHA:1175 |
| Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis |
ORPHA:2815 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia |
OMIM:611694 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Neuronal loss in basal ganglia, Hypoplasia of the pons, Congenital contracture, Fasciculations, B... |
OMIM:607596 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
| Hereditary Myopathy With Early Respiratory Failure |
|
Necrotizing myopathy, Gait disturbance, Muscle fiber hypertrophy, Skeletal muscle atrophy, Intern... |
ORPHA:178464 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Optic atrophy, Cerebellar atrophy, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Gait ataxia, Cerebellar atrophy |
OMIM:117210 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:613954 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Clumsiness, Parkinsonism, Optic atrophy, Gait disturbance, Rigidity, Frequent falls, Chorea, Orom... |
ORPHA:216873 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Oromotor apraxia, Cerebellar atrophy, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of t... |
ORPHA:300573 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Dystonia, Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Bradykinesia, Tr... |
OMIM:615157 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Pachygyria, Agyria, Spasticity, Gray matter heterotopia, Lissencephaly, Agenesis of corpu... |
OMIM:300067 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia, Failure to thrive, Progressive ... |
OMIM:608097 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Neuronal loss in the cerebral cortex,... |
ORPHA:168486 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Babinski sign, Dystonia, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lo... |
OMIM:260300 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Babinski sign, Myopathy, Ragged-red muscle fibers, Upper limb amyotrophy, Frequent falls, Rimmed ... |
OMIM:616924 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Orthostatic hypotension, Bradykinesia, Tremor, Resting tremor |
OMIM:616710 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Diaphragmatic paralysis, Central apnea, Hyperoxemia, Abnormal respiratory system physio... |
ORPHA:70589 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Optic atrophy, Impaired temperature sensation, Paresthesia, Impai... |
ORPHA:99947 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Atrophy/Degeneration involving the caudate nucleus, Lower limb muscle weakness, Gait disturbance,... |
ORPHA:225154 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Babinski sign, Failure to thrive in infancy, Increased intramyocellular lipid droplets,... |
OMIM:619065 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Dystonia, Rigidity, Shuffling gait, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Pa... |
OMIM:615528 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Dysmetria, Tremor, Aplasia of the inferior half of the cerebellar vermis, Dys... |
OMIM:610185 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Rigidity, Gliosis, Shuffling gait, Leukoencephalopathy, Bradykinesia, Apraxia, Abnormal cerebral ... |
OMIM:221820 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Limb muscle weakness, St... |
OMIM:609260 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Spasticity, Gait ataxia |
OMIM:608029 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Babinski sign, Caudate atrophy, Myoclonus, Leukoencephalopathy, Gliosis, Apraxi... |
OMIM:221770 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
| Spinocerebellar Ataxia 48 |
|
Babinski sign, Cachexia, Cerebellar atrophy, Dystonia, Dysmetria, Chorea, Tremor, Ataxia, Parkins... |
OMIM:618093 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Lower limb spasticity, Spa... |
OMIM:612319 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Kyphoscoliosis, Gliosis, Joint contracture of the hand, Arthrogryposis multipl... |
OMIM:214150 |
| Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions, Scoliosis, Fatigable weakness |
OMIM:614750 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Lower limb spasticity, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based ... |
OMIM:616756 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia, C... |
OMIM:615412 |
| Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Gliosis, Tetraplegia, Spasticity, Hypoplasia of the corpus callosum, Cerebral cortical at... |
OMIM:614959 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dystonia, Action tremor |
OMIM:616411 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Failure to thrive... |
OMIM:618404 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Generalized limb muscle atrophy, Spastic ataxia, Cerebral atrophy, Loss of ambulation... |
ORPHA:137898 |
| Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Polymi... |
OMIM:604213 |
| X-Linked Intellectual Disability, Hedera Type |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... |
ORPHA:93952 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction, Spastic paraplegia, Paraparesis, Abnormal lumbar spin... |
ORPHA:101005 |
| Butyrylcholinesterase Deficiency |
|
Respiratory failure, Paralysis, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Kyphosis, Ataxia, Spasticity, Limb ataxia, Gait ataxia, Scoliosis |
OMIM:610743 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Chorea, Apnea, Spastic tetraparesis, Ataxia, Hyperto... |
ORPHA:79097 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Weakness of the intrinsic hand muscles, Triceps... |
ORPHA:98913 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Increased intramyocellular lipid droplets, Tremor, Ataxia, Abnorma... |
OMIM:612016 |
| Oculopharyngodistal Myopathy 3 |
|
Weakness of facial musculature, Limb muscle weakness, Internally nucleated skeletal muscle fibers... |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Type 2 muscle fiber atrophy, Facial palsy, Arthrogryposis multiplex congenita, Decreased miniatur... |
OMIM:608930 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Type 2 muscle fiber predominance, Dysmetria, Myoclonus, Lower limb spasticity... |
OMIM:619028 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Secondary microcephaly, Ataxia, Spasticity, Attention deficit hyperactivity disorder |
OMIM:617854 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Iron accumulation in globus pallidu... |
OMIM:619389 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... |
ORPHA:444099 |
| Parkinsonism With Spasticity, X-Linked |
|
Babinski sign, Bradykinesia, Cogwheel rigidity, Resting tremor, Spasticity, Parkinsonism |
OMIM:300911 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Type 2 muscle fiber atrophy, Arthrogryposis multiplex congenita, Fatigable weakness, Generalized ... |
OMIM:254210 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Increased intramyocellular lipi... |
OMIM:614487 |
| Myopathy And Diabetes Mellitus |
|
Babinski sign, Frequent falls, Progressive cerebellar ataxia, Impaired vibratory sensation, Respi... |
ORPHA:2596 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
| Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Hypertonia, Ankle ... |
OMIM:617435 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Clumsiness, Knee clonus, Stridor, Respiratory insufficiency, Vocal cord paralysis, Facial palsy, ... |
OMIM:211530 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Parietal cortical atrophy, Abnormal pyramidal sign, Abnormal cerebellar peduncle morphology, Dysm... |
ORPHA:98 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic atrophy, Obesity, Tremor, Ataxia, Incoordination, Unsteady gait, Abnormal pyramidal sign |
OMIM:614947 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Myopathy, Type 2 muscle fiber atrophy, Limb muscle weakness, Fatigable weakness, Generalized hypo... |
OMIM:605809 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Gliosis, Arthrogryposis multiplex congenita, Hyper... |
OMIM:615095 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis, Astrocytosis, At... |
ORPHA:204 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dysmetria, Dilated fourth ventricle, Inferior vermis hypoplasia, Tremor, Atax... |
OMIM:614831 |
| Arnold-Chiari Malformation Type Ii |
|
Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Agenesis of corpus... |
ORPHA:1136 |
| Spinocerebellar Ataxia 7 |
|
Babinski sign, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... |
OMIM:164500 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ragged-red muscle fibers, Fatigable weakness, Waddling gait, Hyperlordosis, Flexion contracture, ... |
OMIM:616228 |
| Spastic Paraplegia Type 7 |
|
Optic atrophy, Babinski sign, Optic disc pallor, Cerebellar atrophy, Ragged-red muscle fibers, Sp... |
ORPHA:99013 |
| Primary Angiitis Of The Central Nervous System |
|
Paralysis, Multifocal cerebral white matter abnormalities, Recurrent subcortical infarcts, Parapa... |
ORPHA:140989 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Optic atrophy, Dystonia, Failure to thrive, Respiratory distress, Hypertonia, Lethargy |
ORPHA:26792 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Distal sensory impairment, Ataxia, Tremor, Spasticity, Gait a... |
OMIM:616719 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Spastic ataxia, Fasciculations, Cerebral atrophy, Abnormal pyramidal sign, Titubatio... |
ORPHA:397946 |
| Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... |
OMIM:616981 |
| Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Failure to thrive, Ataxia, Hypertonia, Spasticity, Cerebral ca... |
ORPHA:1314 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss, Upper airway obstruction, Respiratory distress, Dyspnea, Aspiration pneumonia |
ORPHA:141152 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Proximal muscle weakness in lower limbs, Proximal upper limb amyotrophy, Rimmed vacuoles, Muscula... |
OMIM:601954 |
| Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Myopathy, Increased muscle lipi... |
ORPHA:609 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness in lower limbs, Falls, Muscle fiber necrosis, Calf muscle hypertrophy, I... |
OMIM:618848 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Abnormal mitochondria in muscle tissue, Cerebellar atrophy, Dysmetria, Myoclonus, Spast... |
ORPHA:313772 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Cerebellar atrophy, Facial diplegia |
OMIM:616286 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Gait disturbance, Dystonia, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
| Cerebrotendinous Xanthomatosis |
|
Abnormal auditory evoked potentials, Paraparesis, Abnormal pyramidal sign, Abnormal cerebellar pe... |
ORPHA:909 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Babinski sign, Skeletal muscle hypertrophy, Macroglossia, Achi... |
OMIM:608840 |
| Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Progressive... |
ORPHA:248111 |
| Rabies |
|
Cerebral palsy, Attention deficit hyperactivity disorder, Paresthesia, Vocal cord paresis |
ORPHA:770 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Inability to walk, ... |
ORPHA:330050 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, M... |
OMIM:616505 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Lower limb muscle weakness, Spastic paraparesis |
OMIM:182610 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Sciatica, Impaired distal proprioception, Paraparesis |
ORPHA:231445 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Dysmetria, Babinski sign, Tremor |
OMIM:612437 |
| Spinocerebellar Ataxia 42 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Impaired vibration sensation at ankles, Babinski sign, Cerebellar atrophy, Upper limb spasticity,... |
ORPHA:320391 |
| Adult Krabbe Disease |
|
Clumsiness, Hemiplegia, Prolonged brainstem auditory evoked potentials, Lower limb muscle weaknes... |
ORPHA:206448 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Rigidity, Shuffling gait, Bradykinesia, Falls, Resting tremor, Short stepped shuffling gait, Park... |
ORPHA:306692 |
| Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Gliosis, Decreased nerve conduction velocity, Spastic tetraple... |
OMIM:256600 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Perisylvian polymicrogyria, Obesity, Kyphosis, Ataxia, Inability to walk, Cerebellar hypoplasia, ... |
OMIM:618443 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Myopathy, Cerebellar atrophy, Hand muscle weakness, Paresthesia, Ragged-red muscle... |
ORPHA:254886 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Pseudobulbar paralysis, Glio... |
OMIM:169500 |
| Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Impaired proprioception, Cerebral atrophy, Babinski sign, Spastic dysarthria, Lower limb spastici... |
ORPHA:352641 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Failure to thrive, Kypho... |
OMIM:617988 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity |
OMIM:610297 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Steppage gait, Hand tremor, Decreased nerve conduction velocity, Impaired vibration sensation in ... |
ORPHA:352675 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Optic atrophy, Optic disc pallor, Episodic respiratory distress, Head titubation, Cerebellar atro... |
OMIM:301790 |
| Atypical Rett Syndrome |
|
Involuntary movements, Gait disturbance, Dystonia, Limb myoclonus, Sudden episodic apnea, Abnorma... |
ORPHA:3095 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Spasticity, Apraxia, Cer... |
OMIM:617810 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Cerebellar dysplasia, Gliosis, Stereotypy, Tremor, Hyper... |
ORPHA:457240 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Babinski sign, Dystonia, Knee clonus, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Clonus, Babinski sign, Myoclonic spasms, Rigidity, Gliosis, Progressive microcepha... |
OMIM:614498 |
| Dystonia 16 |
|
Postural tremor, Torticollis, Bradykinesia, Abnormal pyramidal sign, Unsteady gait, Parkinsonism,... |
ORPHA:210571 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Clumsiness, Gait disturbance, Arm dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Babinski... |
ORPHA:88644 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Tremor, Ataxia, Spasticity |
OMIM:612438 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Recurrent aspiration pneumonia, Limb myoclonus, Frequent falls, Respiratory insuffici... |
ORPHA:2590 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Frequent falls, Kyphosis, Spinal rigidity, Hyperlordosis, Flexion contracture, Increased variabil... |
OMIM:300718 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Progressive distal muscular atrophy, Myoclonus, Facial palsy, Fasciculations, Tre... |
OMIM:159950 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait disturbance, Gait imbalance, Paresthesia, Impaired pain sensation, Frequent falls, Steppage ... |
ORPHA:435387 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... |
ORPHA:71517 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Skeletal muscle atrophy, Distal amyotrophy |
OMIM:614369 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Rigidity, Subcortical cerebral atrophy, Tremor, Ataxia, Hypertonia, Cerebellar hyp... |
ORPHA:33445 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Pelvic girdle muscle weakness, Autophagic vacuoles, Hip flexor weakness, Facial hypotonia, Should... |
ORPHA:266 |
| Tay-Sachs Disease |
|
Clumsiness, Quadriceps muscle atrophy, Fasciculations, Incoordination, Lower limb muscle weakness... |
ORPHA:845 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Dystonia, Postural tremor, Kinetic tremor, Chorea, Cerebral white mat... |
ORPHA:98756 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Iron accumulation in... |
ORPHA:329284 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Clumsiness, Babinski sign, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... |
OMIM:300100 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Elbow flexion contracture, Simplified gyral pattern, Stereotypy, Tremor, Periventr... |
OMIM:619470 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired proprioception, Clonus, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vib... |
ORPHA:319199 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Frequent falls, Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, Scapula... |
ORPHA:353 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in the l... |
OMIM:600363 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Dysmetria, Failure to thrive, Cerebellar vermis atrophy, Corpus callosum atrophy, ... |
OMIM:614877 |
| Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... |
OMIM:248800 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Decreased n... |
OMIM:618138 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Gait disturbance, Myopathy, Minicore myopathy, Failure to thrive, Scapular winging, EMG: myopathi... |
ORPHA:424107 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Giant somatosensory evoked potentials, Myoclonus, Enhancement of the C-reflex, Tremor, Difficulty... |
OMIM:613608 |
| Spinocerebellar Ataxia Type 28 |
|
Babinski sign, Dystonia, Kinetic tremor, Rigidity, Spasticity, Head tremor, Parkinsonism, Limb at... |
ORPHA:101109 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... |
OMIM:609195 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Cerebellar atrophy, Gliosis, Leukoencephalopathy, Abnormality of extrapyramidal mo... |
OMIM:236792 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Tremor, Prolonged somatosensory evoked potentials |
OMIM:608105 |
| Horner Syndrome, Congenital |
|
Paralysis, Congenital Horner syndrome |
OMIM:143000 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Poor gross motor coordination, Motor conduction block, Impaired distal tactile sensation, Impaire... |
ORPHA:99948 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Athetosis, Parkinsonism, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
| Spinocerebellar Ataxia 28 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Paralysis, Amyotrophic lateral sclerosis |
OMIM:300857 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Myopathy, Cerebellar atrophy, Skeletal muscle atrophy, Gliosis, Facial palsy, Spas... |
OMIM:616239 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Prolonged miniature endplate currents, Type 2 muscle fiber atrophy, Fatigable weakness |
OMIM:601462 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygyria, Dysdiadoch... |
OMIM:224050 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Ragged-red muscle fibers, Impaired distal proprioception, Rigidity, Steppage gait,... |
OMIM:258450 |
| Typical Nemaline Myopathy |
|
Fatiguable weakness of proximal limb muscles, Gait disturbance, Myopathy, Type 1 muscle fiber pre... |
ORPHA:171436 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Paresthesia... |
ORPHA:101081 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
| Tremor, Hereditary Essential, 5 |
|
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Tremor, Hereditary Essential, 6 |
|
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Parkinsonism, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Rigidity, Choreoathetosis, Small for gestational age, Bradykinesia, Tremor, Ataxia, Hyp... |
OMIM:261640 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Left ventri... |
ORPHA:86812 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| Myopathy, Spheroid Body |
|
Proximal amyotrophy, Myopathy, Skeletal muscle atrophy, Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis, Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Leigh Syndrome |
|
Dystonia, Focal substantia nigra T2 hyperintensity, Optic atrophy, Hepatocellular necrosis, Failu... |
OMIM:256000 |
| Acute Peripheral Arterial Occlusion |
|
Impaired distal tactile sensation, Paralysis, Paresthesia |
ORPHA:90064 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Kyphosis, Polymicrogyria, Flexion co... |
OMIM:618291 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Optic atrophy, Cerebellar atrophy, Skeletal muscle atrophy, Tongue fasciculations, Upper limb spa... |
OMIM:617193 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Optic atrophy, Degeneration of the lateral corticospinal tracts, Cerebellar atrophy, Babinski sig... |
OMIM:607259 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Ankle flexion contracture, Kyphoscoliosis, Distal sensory impairment, Tremor, Foot dorsiflexor we... |
OMIM:616668 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... |
OMIM:607688 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Arachnoid Cyst |
|
Gait disturbance, Chiari malformation, Paresthesia, Sciatica, Cranial nerve compression, Facial p... |
ORPHA:2356 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Skeletal muscle atr... |
OMIM:604360 |
| X-Linked Adrenoleukodystrophy |
|
Clumsiness, Gait disturbance, Paralysis, Leg muscle stiffness, Paraparesis, Hyperactivity, Progre... |
ORPHA:43 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
| Episodic Ataxia Type 1 |
|
Clumsiness, Cerebellar atrophy, Poor coordination, Choreoathetosis, Respiratory distress, Hyperto... |
ORPHA:37612 |
| Huntington Disease-Like 2 |
|
Dystonia, Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor |
OMIM:606438 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Cerebellar atrophy, Respiratory insufficiency, Dysmetria, Failure to thrive, Myocl... |
OMIM:618356 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Babinski sign, Upper limb amyotrophy, Kyphoscoliosis, Lower limb spasticity, Knee flexion contrac... |
ORPHA:496689 |
| Synaptic Congenital Myasthenic Syndromes |
|
Myopathy, Hand muscle weakness, Skeletal muscle atrophy, Type 2 muscle fiber atrophy, Frequent fa... |
ORPHA:98915 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Pelvic girdle muscle weakness, Shoulder girdle muscle atrophy, Facial palsy, EMG: myopathic abnor... |
OMIM:254110 |
| Gaucher Disease Type 2 |
|
Dystonia, Abnormal pattern of respiration, Cough, Respiratory distress, Spasticity |
ORPHA:77260 |
| Leukoencephalopathy With Vanishing White Matter |
|
Optic atrophy, Gait disturbance, Gliosis, Leukoencephalopathy, Spasticity, Unsteady gait, Cessati... |
OMIM:603896 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Myoclonus, Gliosis, Diffuse cerebral atrophy, Cerebral atrophy, Microcephaly |
OMIM:614946 |
| Lissencephaly 5 |
|
Optic atrophy, Subcortical band heterotopia, Gray matter heterotopia, Cerebellar hemisphere hypop... |
OMIM:615191 |
| Multiple System Atrophy |
|
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... |
ORPHA:102 |
| Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis, Writer's cramp |
OMIM:159900 |
| Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Type 2 muscle fiber atrophy, Muscle fiber tubular i... |
ORPHA:2593 |
| Bilateral Perisylvian Polymicrogyria |
|
Abnormality of neuronal migration, Distal arthrogryposis, Oromotor apraxia, Limb hypertonia, Weak... |
ORPHA:98889 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Oromandibular dystonia, Contractures of the joints of the upper limbs, Clonus, Opisthotonus, Amyo... |
ORPHA:300605 |
| Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Periventricular nodular heterotopia, Flexion contracture, Gray matter heterotopia,... |
OMIM:617201 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Opisthotonus, Hypoplasia of the pons, Gliosis, Extrapyramidal dyskinesia, Microcephaly, Progressi... |
OMIM:277470 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Gait disturbance, Abnormality of somatosensory evoked ... |
ORPHA:206594 |
| Progressive Supranuclear Palsy |
|
Dystonia, Rigidity, Gliosis, Falls, Bradykinesia, Tremor, Abnormal synaptic transmission, Unstead... |
ORPHA:683 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Dystonia, Choreoathetosis, Myoclonus, Tremor, Hypertonia |
OMIM:261630 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Dysmetria, Spastic dysarthria, Corpus callosum ... |
OMIM:616680 |
| Poliomyelitis |
|
Paralysis, Skeletal muscle atrophy, Abnormal skeletal muscle morphology, Paresthesia, Abnormal mo... |
ORPHA:2912 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Cerebral atrophy, Dystonia, Skeletal muscle atrophy, Facial diplegia, Arthrogryposis multiplex co... |
OMIM:611890 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia |
ORPHA:171703 |
| Gm2-Gangliosidosis, Ab Variant |
|
Paralysis, Dystonia, Chorea, Exaggerated startle response, Spastic tetraparesis, Aspiration, Hype... |
OMIM:272750 |
| X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Gait disturbance, Optic neuropathy, Optic disc pallor,... |
ORPHA:101076 |
| Hsd10 Disease |
|
Optic atrophy, Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Focal whit... |
ORPHA:391417 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Polymicrog... |
ORPHA:370959 |
| Congenital Muscular Dystrophy, Ullrich Type |
|
Abnormal muscle fiber morphology, Frequent falls, Torticollis, Generalized amyotrophy, EMG: myopa... |
ORPHA:75840 |
| Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Lumbar hyperlordosis, Increased variability in muscle fiber diameter, Distal amy... |
OMIM:619042 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Gait disturbance, Babinski sign, Deep cerebral white matter hyperintensities, Upper limb spastici... |
ORPHA:100996 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Loss of ability to walk, Rigidity |
OMIM:615010 |
| Masa Syndrome |
|
Paraplegia, Shuffling gait, Lower limb spasticity, Kyphosis, Hyperlordosis, Spastic paraplegia, A... |
OMIM:303350 |
| Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressive cerebellar ataxia, Ce... |
ORPHA:98773 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Leukoencephalopathy, Spastic ataxia, Spasticity, Gait at... |
OMIM:611390 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Failure to thrive, Kyphoscoliosis, Arthrogryposis multiplex congenita, Abnormal pyramidal sign, C... |
OMIM:260600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Macroglossia, Simplified gyral pattern, Kyphosis, Tremor, Cerebellar vermis atrophy, Distal lower... |
OMIM:300354 |
| Spinocerebellar Ataxia Type 1 |
|
Impaired proprioception, Postural tremor, Optic atrophy, Cerebellar atrophy, Abnormality of somat... |
ORPHA:98755 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Developmental And Epileptic Encephalopathy 68 |
|
Clonus, Failure to thrive, Myoclonus, Exaggerated startle response, Respiratory distress, Spasticity |
OMIM:618201 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Dystonia, Stridor, Shuffling gait, Tremor, Incoordination, Parkinsonism, Oculogyric crisis, Gait ... |
OMIM:618049 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Stereotypy |
OMIM:616341 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Optic disc pallor, Cerebellar atrophy, Dysmetria, Ataxia, Oculomotor apraxia, Dysd... |
OMIM:616204 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Failure to thrive, Respiratory distress, Cerebellar atrophy, Optic atrophy |
OMIM:615597 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Failure to thrive in infancy, Axial dystonia, Decrease... |
OMIM:619026 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Involuntary movements, Abnormal corpus striatum morphology, Skeletal muscle atrophy, Increased va... |
ORPHA:238329 |
| Primary Dystonia, Dyt2 Type |
|
Involuntary movements, Torticollis, Tremor, Generalized dystonia, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Caribbean Parkinsonism |
|
Dystonia, Midline brain calcifications, T2 hypointense basal ganglia, Weakness due to upper motor... |
ORPHA:97355 |
| Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Facial diplegia, Autophagic vacuoles, EMG: myopathic abnormalities, Difficulty walking, Increased... |
ORPHA:399058 |
| Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Cerebellar ... |
OMIM:614563 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Poor motor coordination, Dysmetria, Dilated fourth ventricle, Tremor, Ataxia,... |
ORPHA:1170 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Cough, Positive Romberg sign, Vestibular areflexia, Ataxia, Limb ataxia, Gait... |
OMIM:614575 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Ataxia, Oculomot... |
OMIM:617633 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Optic atrophy, Choreoathetosis, Paraparesis, Ataxia, Tetraparesis, Lethargy |
ORPHA:27 |
| Adult-Onset Nemaline Myopathy |
|
Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, Bradykinesia, Difficulty ... |
ORPHA:171442 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Postural tremor, Babinski sign, Gait disturbance, Lower limb spasticity, Impaired vibratory sensa... |
ORPHA:100988 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Limb hypertonia, Impaired pain sensation, Chorea, Abnormality of extrapyramidal motor f... |
ORPHA:500180 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria, Spasticity |
ORPHA:1084 |
| Myasthenic Syndrome, Congenital, 10 |
|
Proximal amyotrophy, Facial palsy, Fatigable weakness, Waddling gait, Distal amyotrophy |
OMIM:254300 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia, Tremor |
OMIM:618637 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Ataxia, Hyperactivity, Spasticity |
OMIM:300983 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Cerebellar atrophy, Distal amyotrophy, Steppage gait, Distal sensory impairment, Ataxia, Cerebral... |
OMIM:607250 |
| Developmental And Epileptic Encephalopathy 82 |
|
Spastic tetraplegia, Cerebellar vermis hypoplasia, Progressive microcephaly, Inability to walk, C... |
OMIM:618721 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Myopathy, Abnormal auditory evoked potentials, Gait disturbance, Ataxia, Increased... |
OMIM:125250 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress, Inability to walk, Cerebellar atrophy |
OMIM:618006 |
| Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Parkinsonism, Gait disturbance, Cerebellar atrophy, Dystonia, Rigidity, Wr... |
ORPHA:98759 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal sensory impairment, Action trem... |
OMIM:180800 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Distal sensory impairment, Ataxia, Tremor, Oculomo... |
OMIM:208920 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormality of the vertebral column, Abnormal motor neuron morphology, Ubiquitin-positive cerebra... |
ORPHA:52430 |
| Laryngeal Abductor Paralysis |
|
Paralysis, Congenital laryngeal stridor |
OMIM:308850 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Skeletal muscle atrophy, Facial diplegia, Failure to thrive, Spastic paraparesis, ... |
ORPHA:254930 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Vocal cord paresis, Distal sensory impairment, Sensory... |
OMIM:614895 |
| Cap Myopathy |
|
Fatiguable weakness of proximal limb muscles, Abnormal muscle fiber morphology, Frequent falls, L... |
ORPHA:171881 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Cerebellar atrophy, Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Flexion c... |
OMIM:614833 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Increased circulating prolactin concentration, Optic disc pallor, Weakness of facial musculature,... |
ORPHA:502423 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Choreoathetosis, Bradykinesia, Spastic tetraplegia, Wrist flexion contracture, Short neck, Scolio... |
OMIM:300055 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Paresthesia, Dysmetria, Acute rhabdomyolysis, Abnormality of the cervical spine, Kyphosis, Intent... |
ORPHA:48431 |
| Pontocerebellar Hypoplasia Type 2 |
|
Abnormal cortical gyration, Paroxysmal dystonia, Cerebellar cyst, Babinski sign, Viral infection-... |
ORPHA:2524 |
| Parkinson Disease 17 |
|
Rigidity, Bradykinesia, Tremor, Resting tremor, Akinesia, Parkinsonism |
OMIM:614203 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Peroneal muscle atrophy, Babinski sign, Progressive tr... |
OMIM:270550 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Bradykinesia, Hemiparesis, Tremor, Parkinsonism, Neonatal asphyxia, Difficulty walking |
ORPHA:306669 |
| Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Waddling gait, Increased var... |
ORPHA:1878 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... |
ORPHA:79263 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Spasticity |
OMIM:278780 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dy... |
ORPHA:420492 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Lethargy, Optic atrophy, Dystonia, Choreoathetosis, Chorea, Respiratory distress, Hemiplegia/hemi... |
ORPHA:289916 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Ataxia, Oculomotor apraxia, Dysdiadochokinesis, ... |
ORPHA:208513 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Rimmed vacuoles, Waddling gait, Limb-girdle muscular dystrophy, Increased variability i... |
OMIM:612937 |
| Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy |
|
Shoulder girdle muscle atrophy, Gait disturbance, Shoulder girdle muscle weakness, Increased endo... |
ORPHA:437572 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Acroparesthesia, Gait disturbance, Frequent falls, Loss of ambulation, Decreased nerv... |
ORPHA:206443 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
| Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Fatiguable weakness of proximal limb muscles, Hand muscle weakness, Motor conduction block, Pares... |
ORPHA:2932 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Postural tremor, Upper limb amyotrophy, Kyphoscoliosis... |
ORPHA:99950 |
| Muscular Dystrophy, Congenital, Merosin-Positive |
|
Myopathy, Facial palsy, Shoulder girdle muscle weakness, Congenital muscular dystrophy, Flexion c... |
OMIM:609456 |
| Myopathy With Extrapyramidal Signs |
|
Clumsiness, Optic atrophy, Dystonia, Perisylvian polymicrogyria, Hypoplastic anterior limbs of th... |
OMIM:615673 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus, Enhancement of the C-reflex |
OMIM:615127 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... |
OMIM:617672 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Dystonia, Progressive spasticity, Babin... |
OMIM:608804 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory distress, Frontalis m... |
OMIM:300580 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Paresthesia, Camptodactyly of finger, Thoracic scoliosis, Weakness of long finger extensor muscle... |
ORPHA:324442 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Oculopharyngodistal Myopathy |
|
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Abnormality of facial muscu... |
ORPHA:98897 |
| Parkinson Disease 14, Autosomal Recessive |
|
Clumsiness, Dystonia, Rigidity, Bradykinesia, Tremor, Apraxia, Spasticity, Parkinsonism |
OMIM:612953 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Optic atrophy, Babinski sign, Frequent falls, Myoclonus, Progressive gait ataxia, Upper limb hype... |
ORPHA:254343 |
| Mannosidosis, Alpha B, Lysosomal |
|
Babinski sign, Cerebellar atrophy, Macroglossia, Gliosis, Thoracolumbar kyphosis, Spondylolisthes... |
OMIM:248500 |
| X-Linked Centronuclear Myopathy |
|
Fatigable weakness of bulbar muscles, Weakness of facial musculature, Type 1 fibers relatively sm... |
ORPHA:596 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| 4H Leukodystrophy |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor funct... |
ORPHA:289494 |
| Oromandibular Dystonia |
|
Lingual dystonia, Torticollis, Weight loss, Laryngeal dystonia, Respiratory distress, Hyperkineti... |
ORPHA:93958 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Dystonia, Cerebral white matter atrophy, Lower limb spasticity, Kyphosis, Ataxia, Waddling gait, ... |
ORPHA:464282 |
| Myasthenic Syndrome, Congenital, 12 |
|
Proximal amyotrophy, Waddling gait, Facial palsy, Fatigable weakness |
OMIM:610542 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Babinski sign, Optic atrophy, Cerebellar atrophy, Dystonia, Respiratory insufficiency, Failure to... |
OMIM:618226 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Dystonia, Choreoathetosis, Tremor, Ataxia, Oculomotor apraxia, Hyperactivity, Spasticity |
OMIM:612716 |
| Leigh Syndrome |
|
Neuronal loss in basal ganglia, Focal T2 hyperintense basal ganglia lesion, Encephalomalacia, Abn... |
ORPHA:506 |
| Multiple System Atrophy, Cerebellar Type |
|
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... |
ORPHA:227510 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Cerebellar atrophy, Weakness of facial musculature, Choreoathetosis, Dysmetria, Ataxia,... |
OMIM:618088 |
| Multiple System Atrophy, Parkinsonian Type |
|
Postural tremor, Parkinsonism, Stridor, Orthostatic hypotension due to autonomic dysfunction, Rig... |
ORPHA:98933 |
| Bethlem Myopathy 2 |
|
Myopathy, Kyphosis, Flexion contracture, Increased variability in muscle fiber diameter, Scapular... |
OMIM:616471 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Proximal amyotrophy, Scapuloperoneal amyotrophy, Reduced muscle fiber alpha dystroglycan, Frontal... |
ORPHA:206559 |
| Band Heterotopia |
|
Subcortical band heterotopia, Polymicrogyria, Spasticity, Gray matter heterotopia, Agenesis of co... |
OMIM:600348 |
| Myopathic Ehlers-Danlos Syndrome |
|
Contractures involving the joints of the feet, Decreased muscle mass, Ankle flexion contracture, ... |
ORPHA:536516 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Gliosis, Lethargy |
OMIM:613002 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
| Myopathy, Myofibrillar, 7 |
|
Shoulder flexion contracture, Z-band streaming, Type 2 muscle fiber predominance, Skeletal muscle... |
OMIM:617114 |
| Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Corpus ... |
ORPHA:228360 |
| Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Myopathy, Skeletal muscle atrophy, Congenital muscular dystrophy, Increased variability in muscle... |
OMIM:613204 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Spasticity, Cerebellar ... |
ORPHA:529665 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Gait disturbance, Dystonia, Clonus, Upper limb hypertonia, Kyphosis, Impaired vibratory sensation... |
OMIM:614898 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Gait disturbance, Rigidity, Decreased sensory nerve co... |
OMIM:603472 |
| Riboflavin Transporter Deficiency |
|
Cachexia, Optic disc pallor, Abnormal cranial nerve morphology, Respiratory insufficiency, Myoclo... |
ORPHA:97229 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
