| Spinocerebellar Ataxia 43 |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Rigidity, Distal sensory impairment, Tremor, Gait... |
OMIM:617018 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
| Spinocerebellar Ataxia 37 |
|
Ataxia, Frequent falls, Tremor, Cerebellar atrophy, Unsteady gait |
OMIM:615945 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Somatic sensory dysfunction, Difficulty walking, Gait ataxia, Tremor, Cerebellar atrophy |
ORPHA:423296 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Episodic Ataxia, Type 1 |
|
Babinski sign, Incoordination, Tremor, Spastic gait, Slurred speech, Episodic ataxia |
OMIM:160120 |
| Cerebellar Ataxia And Albinism |
|
Ataxia, Head tremor, Olivopontocerebellar atrophy |
OMIM:258300 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar ... |
ORPHA:94122 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria... |
ORPHA:284332 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Dysdiadochokinesis, Myoclonus, Truncal ata... |
ORPHA:363710 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Diffuse cerebellar atrophy, Babinski sign, Distal sensory impairment, Somatic sensory dys... |
ORPHA:101010 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy |
OMIM:605388 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Short stature, Periventricular nodular heterotopia, Cerebellar hypoplasia, Spa... |
OMIM:618572 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Short stature, Dysdiadochokinesis, Gait ataxia, Ce... |
OMIM:616291 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Abnormal pons morphology, Impaired vibration sensation in the lower limbs, Babinski sign, Progres... |
ORPHA:171622 |
| Lissencephaly 3 |
|
Ataxia, Gray matter heterotopia, Polymicrogyria, Agyria, Cerebellar vermis hypoplasia, Lissenceph... |
OMIM:611603 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Limb ataxia, Ankle clonus, Babinski sign, Truncal ataxia, Cerebellar hypoplasia, Tremor, Spastici... |
OMIM:615768 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Lissencephaly, X-Linked, 1 |
|
Ataxia, Gray matter heterotopia, Agyria, Lissencephaly, Spasticity, Postnatal growth retardation,... |
OMIM:300067 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:616187 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:617769 |
| Lissencephaly 1 |
|
Gray matter heterotopia, Cerebellar hypoplasia, Agyria, Lissencephaly, Subcortical band heterotop... |
OMIM:607432 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Ataxia, Babinski sign, Frequent falls, Impaired distal vibration sensation, Spasticity, Cerebella... |
OMIM:619742 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy |
OMIM:617917 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:616410 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormal cerebellum morphology, Myoclonus, Babinski sign, Tremor, Cerebellar atrophy, Abn... |
OMIM:615362 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Tremor, Spasticity, Cerebellar atrophy, Apraxia, Dystonia |
OMIM:615889 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Ataxia, Hemiparesis, Tremor, Cerebellar atrophy |
OMIM:141500 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Abnormal cerebellum morphology... |
ORPHA:98762 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Ataxia, Short stature, Tremor, Cerebellar atrophy |
OMIM:617862 |
| Spinocerebellar Ataxia 23 |
|
Dysmetria, Impaired vibration sensation in the lower limbs, Limb ataxia, Babinski sign, Tremor, G... |
OMIM:610245 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Cere... |
OMIM:616948 |
| Spinocerebellar Ataxia 18 |
|
Dysmetria, Dysdiadochokinesis, Babinski sign, Tremor, Progressive gait ataxia, Cerebellar atrophy |
OMIM:607458 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Short stature, Intention tremor, Gait ataxia, Spasticity, Cerebell... |
OMIM:608029 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Broad-based gait, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis, Truncal ataxia,... |
OMIM:224050 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy |
OMIM:615268 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Short stature, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasti... |
OMIM:213200 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Gray matter heterotopia, Agyria, Lissencephaly, Spastic tetraplegia, Subcortical band heterotopia... |
OMIM:615411 |
| Spinocerebellar Ataxia Type 20 |
|
Ataxia, Isometric tremor, Bradykinesia, Laryngeal dystonia, Intention tremor, Tremor by anatomica... |
ORPHA:101110 |
| Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses |
OMIM:601071 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Spinocerebellar Ataxia 38 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:615957 |
| Dystonia With Cerebellar Atrophy |
|
Torticollis, Progressive cerebellar ataxia, Craniofacial dystonia, Cerebellar atrophy, Dystonia |
OMIM:611694 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Cereb... |
OMIM:611302 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Intention tremor, Ataxia, Action tremor, Cerebellar atrophy |
OMIM:302500 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Cerebellar hypoplasia, Postnatal growth retardation, Dystonia |
OMIM:616113 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Broad-based gait, Abnormal cerebellum morphology, Clumsiness, Dysmetria, Poor coordination, Ankle... |
OMIM:270500 |
| Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
| Behr Syndrome |
|
Ataxia, Dysmetria, Babinski sign, Progressive spasticity, Tremor, Gait disturbance, Cerebellar at... |
OMIM:210000 |
| Spinocerebellar Ataxia 31 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Limb ataxia |
OMIM:117210 |
| Microlissencephaly |
|
Hypertonia, Periventricular heterotopia, Polymicrogyria, Lissencephaly, Cerebellar atrophy, Simpl... |
ORPHA:1083 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Ataxia, Motor stereotypy, Hydrocephalus |
OMIM:618709 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Tremor, Gait ataxia, Cerebellar atrophy, Steppage gait |
OMIM:618387 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Fascic... |
OMIM:613728 |
| Spinocerebellar Ataxia Type 14 |
|
Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Somat... |
ORPHA:98763 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Rigidity, Gait disturbance, Tremor, Cerebellar atrophy |
OMIM:618090 |
| Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Hypertonia, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Lissencephaly, Spastic tetrapar... |
OMIM:604317 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocere... |
ORPHA:423275 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Cerebellar vermis hypoplasia, Cerebellar atrophy |
OMIM:618876 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Pontocere... |
OMIM:616053 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Gait ataxia, Spasticity, Cerebellar atrophy, Growth delay |
OMIM:614322 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Aplasia/Hypoplasia of the cerebellum, Tre... |
ORPHA:79262 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Cerebellar hypoplasia, Polymicrogyria |
OMIM:615771 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Inability to walk, Dysmetria, Short stature, Dysdiadochokinesis, Abnormal pyramidal sign,... |
OMIM:614831 |
| Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Ataxia, Babinski sign, Spasticity |
OMIM:611105 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Deafness, Autosomal Recessive 104 |
|
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment |
OMIM:616515 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Spinocerebellar Ataxia 12 |
|
Action tremor, Progressive cerebellar ataxia, Axial dystonia, Dysmetria, Dysdiadochokinesis, Park... |
OMIM:604326 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysmetria, Short stature, Dysdiadochokinesis, Truncal ataxia, Cerebellar hypoplasia, Tremor, Apla... |
OMIM:610185 |
| Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, C... |
OMIM:616127 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypertonia, Hypoplasia of the pons, Cerebellar hypoplasia, Periventricular ribbonlike heterotopia... |
OMIM:618677 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dysto... |
OMIM:614860 |
| Symmetrical Thalamic Calcifications |
|
Hypertonia, Ataxia, Failure to thrive, Spasticity, Abnormality of neuronal migration |
ORPHA:1314 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy |
OMIM:612016 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
ORPHA:494526 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Dysmetria, Babinski sign, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Hypertonia, Spastic gait, Limb ataxia, Impaired vibration sensation in the lower limbs, Babinski ... |
ORPHA:251282 |
| Spinocerebellar Ataxia 48 |
|
Ataxia, Dysmetria, Cachexia, Babinski sign, Parkinsonism, Chorea, Tremor, Gait ataxia, Cerebellar... |
OMIM:618093 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Cerebellar atrophy, Lower limb spasticity, Impaired tandem ... |
OMIM:619028 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Impaired vibratory sensat... |
ORPHA:284324 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Atrophy of the dentate nucleus, Dystonia |
OMIM:125370 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Ataxia, Distal sensory impairment, Frequent falls, Tremor, Gait ataxia, Spasticity, Cerebellar at... |
OMIM:616719 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Cerebellar Purkinje layer atrophy, Parkinsonism, Fasciculations, A... |
ORPHA:98756 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Failure to thrive, Ataxia, Myoclonus, Tremor, Spasticity, Cerebellar atrophy |
OMIM:616494 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosi... |
OMIM:616230 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Ataxia, Bradykinesia, Resting tremor, Impaired vibratory sensation, Babinski sign, Abnormal pyram... |
OMIM:617225 |
| Spinocerebellar Ataxia 46 |
|
Dysmetria, Limb ataxia, Positive Romberg sign, Gait ataxia, Cerebellar atrophy |
OMIM:617770 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Low-set ears, EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar vermis atrophy, Poor fine motor coordination, Intention tremor, Freq... |
ORPHA:512260 |
| Chudley-Mccullough Syndrome |
|
Hydrocephalus, Gray matter heterotopia, Cerebellar hypoplasia, Polymicrogyria, Cerebellar dysplasia |
OMIM:604213 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Bradykinesia, Dysdiadochokinesis, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Atheto... |
OMIM:213600 |
| X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Dysmetria, Limb ataxia, Int... |
ORPHA:1175 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Cerebe... |
OMIM:609270 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Normal pressure hydrocephalus, Gait disturbance |
OMIM:611808 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Ataxia, Gait ataxia, Cerebellar atrophy, Unsteady gait |
OMIM:615705 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Tremor, Babinski sign, Gait disturbance |
OMIM:300660 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Tip-toe gait, Intention tremor, Short stature, Babinsk... |
ORPHA:397946 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Impaired vibration sensation at ankles, Ataxia, ... |
OMIM:616795 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Periventricular heterotopia, Failure to thrive, Tetraparesis |
OMIM:608097 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Oromandibular dystonia, Loss of ambulation, Bradykinesia, Ankle clonus, Babinski sign, Parkinsoni... |
ORPHA:521406 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Bradykinesia, Short stature, Rigidity, Tremor, Chiari type I malformation, Dystonia |
OMIM:617836 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Spinocerebellar Ataxia Type 27 |
|
Akinesia, Hand tremor, Limb ataxia, Truncal ataxia, Gait disturbance, Tremor, Difficulty walking,... |
ORPHA:98764 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Cerebellar atrophy, Spastic g... |
OMIM:610357 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Difficulty walking, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Short stature, Rigidity, Tremor, Choreoathetosis, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:612438 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Dilated fourth ventricle, Tremor, Ga... |
ORPHA:1170 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Truncal titubation, Dysm... |
OMIM:117360 |
| Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Bradykinesia,... |
ORPHA:248111 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dysmetria, Intention tremor, Babinski sign, Nonprogressive cerebellar ataxia, Truncal... |
ORPHA:453521 |
| Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Cerebellar hypoplasia, Polymicrogyria, Gait disturbance, Spasticity, Pachygyria |
OMIM:616654 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Ataxia, Small for gestational age, Tremor, Spasticity, Growth delay |
OMIM:278780 |
| Neurodegeneration With Brain Iron Accumulation |
|
Abnormality of extrapyramidal motor function, Rigidity, Chorea, Spasticity, Cerebellar atrophy, D... |
ORPHA:385 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Spinocerebellar Ataxia 7 |
|
Progressive cerebellar ataxia, Dysmetria, Babinski sign, Chorea, Olivopontocerebellar atrophy, Tr... |
OMIM:164500 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Cerebellar vermis atrophy, Small for gestational age, Babinski sign, Dilated... |
OMIM:619054 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Spas... |
OMIM:300423 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Dysmetria, Gait ataxia, Ce... |
OMIM:605361 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Failure to thrive, Ataxia, Tetraparesis, Athetosis, Cerebellar atrophy, Growth delay, Dystonia |
OMIM:619310 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Ataxia, Short stature, Abnormal pyramidal sign, Tremor, Unsteady gait, Incoordination, Obesity |
OMIM:614947 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormal cerebellum morphology, Small for gestational age, Short stature, Increased body mass ind... |
OMIM:300957 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:615386 |
| X-Linked Intellectual Disability, Hedera Type |
|
Action tremor, Inability to walk, Dysmetria, Extrapyramidal muscular rigidity, Babinski sign, Fre... |
ORPHA:93952 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Torticollis, Bradykinesia, Resting tremor, Parkinsonism, Craniofacial dystonia, Gait ataxia, Limb... |
ORPHA:71517 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Dysmetria, Cerebellar hypoplasia, Tremor, Gait ataxia, Spasticity, Cerebellar ... |
OMIM:617810 |
| Spinocerebellar Ataxia 15 |
|
Action tremor, Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:606658 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Agyria, Pachygyria, Gray matter heterotopia, Spasticity |
ORPHA:1084 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Progressive cerebellar ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Cerebellar atrophy, Dy... |
ORPHA:139485 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Gray matter heterotopia, Tip-toe gait, Frequent falls, Difficulty walking, Cerebellar atrophy, Pa... |
ORPHA:370980 |
| Band Heterotopia |
|
Hydrocephalus, Gray matter heterotopia, Polymicrogyria, Spasticity, Subcortical band heterotopia |
OMIM:600348 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Impaired vibratory sensation, Intention tremor, Dysdiadochokinesis, Gait ... |
OMIM:600224 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Ataxia, Abnormal cerebellum morphology, Progressive cerebellar ataxia, Abnormal pons morphology, ... |
ORPHA:98 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Abnormal cerebellum morphology, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkins... |
OMIM:618317 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Spasticity, Cerebellar atrophy |
OMIM:617916 |
| Spinocerebellar Ataxia Type 29 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait ataxia, ... |
ORPHA:208513 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Bradykinesia, Dysmetria, Spastic paraparesis, Dysdiadochokinesis, Babinski sign, Olivopon... |
OMIM:615157 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Oromandibular dystonia, Clumsiness, Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Freq... |
ORPHA:216873 |
| Spinocerebellar Ataxia 49 |
|
Ataxia, Loss of ambulation, Dysmetria, Dysdiadochokinesis, Babinski sign, Unsteady gait, Cerebell... |
OMIM:619806 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Dysmetria, Tremor, Titubation, Unsteady gait, Cerebellar atrophy |
OMIM:619405 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypertonia, Ataxia, Abnormal cerebellar vermis morphology, Rigidity, Cerebellar hypoplasia, Tremo... |
ORPHA:33445 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Truncal ataxia, S... |
ORPHA:352403 |
| Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Cerebellar atrophy, Oculomotor apraxia, Dystonia, Tetraplegia |
OMIM:616267 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, ... |
OMIM:616204 |
| Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis, Myoclonus, Dilated fourth... |
ORPHA:251347 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spasticity, Cerebellar atrophy, Dystonia |
OMIM:611390 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Cerebell... |
OMIM:619738 |
| Spinocerebellar Ataxia Type 26 |
|
Progressive cerebellar ataxia, Limb ataxia, Babinski sign, Truncal ataxia, Progressive gait ataxi... |
ORPHA:101112 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Hypertonia, Loss of ambulation, Clumsiness, Progressive cerebellar ataxia, Poor fine motor coordi... |
ORPHA:137898 |
| Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Blepharospasm, Cerebellar Purkinje layer atrophy, Abnormal pyramidal sign, P... |
ORPHA:98759 |
| Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Subcortical heterotopia, Polymicrogyria, Spasticity |
ORPHA:101029 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... |
OMIM:616981 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Ataxia, Dysmetria, Limb ataxia, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:610743 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, Myoclonus, Myoclonic spasms, Chorea,... |
ORPHA:79263 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Paraparesis, Dysmetria, Hand tremor, Tip-toe gait, Babinski sign, Distal sensory impairment, Freq... |
OMIM:302800 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Perisylvian polymicrogyria, Hypertonia, Broad-based gait, Dysmetria, Ankle clonus, Babinski sign,... |
OMIM:606854 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia, Failure to thrive |
OMIM:618951 |
| Spinocerebellar ataxia 27 |
|
Ataxia, Limb ataxia, Impaired vibratory sensation, Truncal ataxia, Head tremor, Gait ataxia, Cere... |
OMIM:609307 |
| Ataxia-Oculomotor Apraxia 3 |
|
Ataxia, Dysmetria, Distal sensory impairment, Frequent falls, Cerebellar atrophy, Oculomotor apraxia |
OMIM:615217 |
| Spinocerebellar Ataxia Type 21 |
|
Akinesia, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia... |
ORPHA:98773 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Tip-toe gait, Retrocollis, Short stature... |
OMIM:617284 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Bradykinesia, Limb ataxia, Limb myoclonus, Somatic sensory dysfunction, Gait ataxia,... |
OMIM:619862 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus, Cerebellar atrophy |
OMIM:256731 |
| Primary Dystonia, Dyt13 Type |
|
Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Loss of ambulation, Dysmetria, Short stature, Babinski sign, Tremor, Spasticity, Cerebell... |
OMIM:607694 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Decreased body weight, Abnormality of extrapyramidal motor function, Abnormal pyramidal s... |
OMIM:617672 |
| Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Dysmetria, Tremor, Unsteady gait, Cerebellar atrophy, Oculomotor apraxia |
OMIM:614867 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ataxia, Inability to walk, Short stature, Cerebellar hypoplasia, Unsteady gait, Oculomotor apraxia |
OMIM:618273 |
| Spinocerebellar Ataxia 2 |
|
Ataxia, Action tremor, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Impai... |
OMIM:183090 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Spasticity |
OMIM:618185 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tongue fasciculations, Gait disturbance, Tremor, Impaired distal vibration sen... |
ORPHA:276435 |
| Primary Dystonia, Dyt27 Type |
|
Oromandibular dystonia, Action tremor, Axial dystonia, Laryngeal dystonia, Writer's cramp, Upper ... |
ORPHA:464440 |
| Lopes-Maciel-Rodan Syndrome |
|
Hypertonia, Bradykinesia, Ankle clonus, Abnormal pyramidal sign, Tremor, Spasticity, Unsteady gai... |
OMIM:617435 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Broad-based gait, Motor stereotypy, Hydrocephalus, Tremor, Spastic tetraparesis, Simplified gyral... |
OMIM:619470 |
| 4H Leukodystrophy |
|
Ataxia, Dysmetria, Short stature, Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar... |
ORPHA:289494 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Action tremor, Intention tremor, Myoclonus, Gait ataxia, Cerebellar atrophy, Postural tremor |
OMIM:254900 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Loss of ambulation, Limb ataxia, Truncal ataxia, Chorea, Distal sensory impairment, Tremo... |
OMIM:208920 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis, Cerebellar... |
OMIM:606183 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Spastic paraplegia, Tremor, Clonu... |
OMIM:600363 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Spinocerebellar Ataxia 28 |
|
Limb ataxia, Babinski sign, Parkinsonism, Somatic sensory dysfunction, Gait ataxia, Spasticity, C... |
OMIM:610246 |
| Lissencephaly 5 |
|
Hydrocephalus, Gray matter heterotopia, Type II lissencephaly, Spastic paraplegia, Cerebellar ver... |
OMIM:615191 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:617691 |
| Spinocerebellar Ataxia 26 |
|
Limb ataxia, Truncal ataxia, Gait ataxia, Cerebellar atrophy, Incoordination |
OMIM:609306 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Limb ataxia, Abnormal pyramidal sign, Truncal ataxia, Head titubation, Spasticity, L... |
OMIM:617560 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Delayed menarche, Oculogyric crisis, Tremor, Difficulty walking, Cerebellar at... |
ORPHA:330050 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Hypertonia, Ataxia, Bradykinesia, Small for gestational age, Parkinsonism, Rigidity, Tremor, Chor... |
OMIM:261640 |
| Spinocerebellar Ataxia 8 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Tremor, Spasticity, Cerebellar atrophy, I... |
OMIM:608768 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Babinski sign, Par... |
OMIM:260300 |
| Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Distal sensory impairment, Limb dysmetria, Cerebell... |
OMIM:600223 |
| Cataract-Ataxia-Deafness Syndrome |
|
Hypertonia, Ataxia, Tremor, Short stature |
ORPHA:1368 |
| Urocanase Deficiency |
|
Tremor, Ataxia, Short stature |
OMIM:276880 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Sensorineural hearing impairment, Urinary bladder sphincter dysfunction, Abnormal motor evoked po... |
ORPHA:320401 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Hydrocephalus, Gray matter heterotopia, Dysgyria, Cerebellar hypoplasia, Type II lissencephaly, O... |
ORPHA:352682 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity, Continuous spike and waves during slow s... |
OMIM:301008 |
| Nephronophthisis 16 |
|
Nephronophthisis, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficiency, Stage 5 chro... |
OMIM:615382 |
| Hsd10 Disease |
|
Ataxia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance, Tremor, Choreoathetosis, Post... |
ORPHA:391417 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Impaired vibration sensation at ankles, Ataxia, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Cln5 Disease |
|
Ataxia, Poor gross motor coordination, Clumsiness, Inability to walk, Dysmetria, Dysdiadochokines... |
ORPHA:228360 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Limb ataxia, Intention tremor, Dysdiadochokinesis, Abnormal pyramidal sign, Gait ataxia, ... |
OMIM:133190 |
| Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials, Prolonged s... |
OMIM:616648 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Dysmetria, Cerebellar hypoplasia, Tremor, Difficulty walking, Gait ataxia, Spasticity, Cerebellar... |
ORPHA:529665 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Hypertonia, Intrauterine growth retardation, Short stature |
ORPHA:2216 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Cerebellar vermis atrophy, Dysmetria, Short stature, Intention tremor, Dysdiadochokinesis... |
OMIM:614381 |
| Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Prolinuria, EEG abnormality, Hyperglycinuria, Hyperactivity |
OMIM:239500 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Somatic sensory dysfunction, Difficulty... |
ORPHA:101077 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Dysmetria, Spastic paraparesis, Oculomotor apraxia, Dysdiadochokinesis, Myoclonus, Spasti... |
OMIM:614487 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Gerstmann-Straussler Disease |
|
Bradykinesia, Limb ataxia, Myoclonus, Parkinsonism, Truncal ataxia, Rigidity, Tremor, Gait ataxia... |
OMIM:137440 |
| Atypical Rett Syndrome |
|
Loss of ambulation, Inability to walk, Hand apraxia, Pill-rolling tremor, Stereotypical hand wrin... |
ORPHA:3095 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Intention tremor, Ankle clonus, Truncal at... |
ORPHA:284289 |
| Spinocerebellar Ataxia Type 36 |
|
Loss of Purkinje cells in the cerebellar vermis, Ataxia, Dysmetria, Limb ataxia, Hand tremor, Int... |
ORPHA:276198 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Hepatosplenomegaly, Hyperechogenic kidneys, Enlar... |
OMIM:619902 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Decreased body weight, Sensory ataxia, Short stature, Babinski sign, Gait ataxia, Cerebellar atrophy |
ORPHA:445062 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Bradykinesia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Rigidity, Parkin... |
OMIM:300894 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:600116 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Dysmetria, Impaired vibration sensation in the lower limbs, Ankle clonus, Babinski sign, ... |
OMIM:159550 |
| Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Hypertonia, Ataxia, Inability to walk, Failure to thrive, Cerebellar hypoplasia, Tremor |
OMIM:619556 |
| Spinocerebellar Ataxia Type 18 |
|
Dysmetria, Head tremor, Somatic sensory dysfunction, Titubation, Gait ataxia, Cerebellar atrophy |
ORPHA:98771 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Ataxia, Inability to walk, Short stature, Dystonic gait, Cerebellar hypoplasia... |
ORPHA:280210 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Tremor, Shuffling gait, Incoordinati... |
OMIM:618049 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Hypertonia, Ataxia, Dysmetria, Cerebellar gliosis, Intention tremor, Myoclonus, Babinski sign, Di... |
OMIM:616505 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Failure to thrive, Ataxia, Inability to walk, Cerebellar vermis atrophy, Short ... |
OMIM:312080 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials |
ORPHA:99852 |
| Mohr-Tranebjaerg Syndrome |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Postlingual sensorineural ... |
ORPHA:52368 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Incoordination, Cerebellar hypoplasia, ... |
OMIM:618060 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Loss of Purkinje cells in the cerebellar vermis, Progressive cerebellar ataxia, B... |
ORPHA:98755 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Growth delay, Ataxia, Tremor, Choreoathetosis, Spasticity, Oculomotor apraxia, Dystonia |
OMIM:612716 |
| Chiari Malformation Type Ii |
|
Myelomeningocele, Ataxia, Gray matter heterotopia, Hydrocephalus, Opisthotonus, Chiari malformati... |
OMIM:207950 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Cerebellar dyspl... |
OMIM:615960 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Short stature, Babinski sign, Cerebellar hypoplasia, Abnormality of neuronal migration, Pachygyria |
OMIM:608840 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Inability to walk, Stereotypical hand wringing, Chorea, Gait ataxia, Spasticity... |
OMIM:618917 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Ataxia, Decreased body weight, Periventricular heterotopia, Cerebellar hypoplasia, Pachygyria, In... |
ORPHA:255138 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
| Boucher-Neuhauser Syndrome |
|
Ataxia, Spinocerebellar atrophy, Intention tremor, Gait ataxia, Spasticity, Cerebellar atrophy |
OMIM:215470 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Myoclonus, Truncal ataxia, Chorea, Tremor, Gait ataxia |
OMIM:618587 |
| Gabriele-De Vries Syndrome |
|
Waddling gait, Tremor, Intrauterine growth retardation, Dystonia |
OMIM:617557 |
| Fragile X Tremor/Ataxia Syndrome |
|
Action tremor, Bradykinesia, Poor fine motor coordination, Dysmetria, Resting tremor, Intention t... |
OMIM:300623 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Intention tremor, Ankle clonus, Babinski sign, Head titubation, Spastic parapl... |
OMIM:615491 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Elongated superior cerebellar peduncle, Ataxia, Dilated fourth ventricle, Inferior cerebellar ver... |
ORPHA:370022 |
| Hypermanganesemia With Dystonia 2 |
|
Oromandibular dystonia, Clumsiness, Bradykinesia, Inability to walk, Opisthotonus, Tip-toe gait, ... |
OMIM:617013 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Chorea, Frequent falls, Gait ataxia, Cerebellar atrophy, Oculomotor apraxia, ... |
OMIM:604391 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Hypertonia, Inability to walk, Bradykinesia, Myoclonus, Parkinsonism, Truncal ataxia, Polymicrogy... |
OMIM:618877 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, EEG abnormality, Choreoath... |
OMIM:617519 |
| Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Hypsarrhythmia |
OMIM:619970 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Failure to thrive, Dystonia |
OMIM:619651 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Cerebellar hypoplasia, Tremor, Choreoathetosis, Growth delay, Dystonia |
OMIM:619422 |
| Spinocerebellar Ataxia 21 |
|
Ataxia, Akinesia, Progressive cerebellar ataxia, Limb ataxia, Intention tremor, Abnormality of ex... |
OMIM:607454 |
| Spinocerebellar Ataxia Type 10 |
|
Gait imbalance, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, B... |
ORPHA:98761 |
| Spinocerebellar Ataxia Type 8 |
|
Ataxia, Cerebellar vermis atrophy, Bradykinesia, Limb ataxia, Impaired vibratory sensation, Rigid... |
ORPHA:98760 |
| Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Hypertonia, Babinski sign, Distal sensory impairment, Tremor, Spasticity, Steppage gait |
OMIM:609260 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Bradykinesia, Resting tremor |
OMIM:616710 |
| Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Abnormality of neuronal m... |
ORPHA:945 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Perisylvian polymicrogyria, Gray matter heterotopia, Oromotor apraxia, Hemiparesis, Polymicrogyri... |
ORPHA:300573 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:301840 |
| Myopathy, Spheroid Body |
|
Broad-based gait, Tremor, Waddling gait |
OMIM:182920 |
| Huntington Disease-Like 2 |
|
Action tremor, Bradykinesia, Rigidity, Chorea, Weight loss, Dystonia |
OMIM:606438 |
| Myopathy With Extrapyramidal Signs |
|
Perisylvian polymicrogyria, Growth delay, Ataxia, Clumsiness, Chorea, Frequent falls, Tremor, Dif... |
OMIM:615673 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Ataxia, Babinski sign, Gait disturbance, Progressive spastic paraplegia, Cerebellar atrophy |
OMIM:612020 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Mitochondrial Myopathy With Lactic Acidosis |
|
Growth delay, Tip-toe gait, Dysmetria, Hemiparesis, Spasticity, Postnatal growth retardation, Dys... |
OMIM:251950 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
| Lissencephaly 6 With Microcephaly |
|
Periventricular heterotopia, Pachygyria, Limb hypertonia, Polymicrogyria, Lissencephaly, Spastici... |
OMIM:616212 |
| Familial Infantile Myoclonic Epilepsy |
|
Ataxia, Clumsiness, Blepharospasm, Periventricular nodular heterotopia, Limb myoclonus, Gait dist... |
ORPHA:352582 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:614229 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Limb fasciculations, Distal sensory impairment, Tremor, Somatic sensory dysfun... |
ORPHA:90117 |
| Joubert Syndrome |
|
Ataxia, Hydrocephalus, Polymicrogyria, Gait disturbance, Tremor, Cerebellar vermis hypoplasia, Ab... |
ORPHA:475 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Cerebellar atrophy, Dystonia |
ORPHA:329284 |
| Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Spinocerebellar Ataxia Type 42 |
|
Impaired vibration sensation at ankles, Cerebellar vermis atrophy, Abnormal cerebellum morphology... |
ORPHA:458803 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Ataxia, Spasticity |
OMIM:300983 |
| Dystonia 12 |
|
Torticollis, Bradykinesia, Parkinsonism, Tremor, Unsteady gait, Dystonia |
OMIM:128235 |
| Developmental And Epileptic Encephalopathy 42 |
|
Hypertonia, Ataxia, Tremor, Athetosis |
OMIM:617106 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Acroparesthesia, Nasofrontal encephalocele, Limb myocl... |
ORPHA:101030 |
| Spinocerebellar Ataxia 13 |
|
Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Limb dysmetria, Gait ataxia,... |
OMIM:605259 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Hyperactivity, Macrotia |
OMIM:300928 |
| Developmental And Epileptic Encephalopathy 43 |
|
Attention deficit hyperactivity disorder, Hyperactivity, Hypsarrhythmia |
OMIM:617113 |
| Spinocerebellar Ataxia 10 |
|
Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Babinski... |
OMIM:603516 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Hyperactivity, Increased urinary disaccharide excretion |
OMIM:248510 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Ataxia, Akinesia, Resting tremor, Intention tremor, Dysdiadochokinesis, Babinski sign, Parkinsoni... |
ORPHA:247234 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
| Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Intrauterine growth retardation |
ORPHA:1980 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
| Morm Syndrome |
|
Abnormality of the kidney, Hyperactivity, Micropenis |
ORPHA:75858 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
| Spinocerebellar Ataxia Type 13 |
|
Torticollis, Clumsiness, Bradykinesia, Limb ataxia, Short stature, Myoclonus, Titubation, Impaire... |
ORPHA:98768 |
| Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Encephalocele, Hemiplegia/hemiparesis, Aplasia/Hypoplasia of t... |
ORPHA:65 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Hypertonia, Abnormal cerebellum morphology, Truncal titubation, Dysmetria, Tremor, Gait ataxia, C... |
OMIM:618056 |
| Ataxia With Vitamin E Deficiency |
|
Ataxia, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Dysdiadochokinesis, Positive Romber... |
OMIM:277460 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| Migraine, Familial Hemiplegic, 2 |
|
Hemiplegia, Dysmetria, Hemiparesis, Tremor, Gait ataxia, Cerebellar atrophy, Apraxia, Episodic at... |
OMIM:602481 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Craniofacial dystonia, Writer's cramp, Diffi... |
ORPHA:420492 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Cerebellar vermis atrophy, Short stature, Polymicrogyria, Tremor, Gait ataxia,... |
OMIM:300354 |
| Dentatorubral Pallidoluysian Atrophy |
|
Oromandibular dystonia, Ataxia, Dyssynergia, Progressive cerebellar ataxia, Action tremor, Limb a... |
ORPHA:101 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Limb ataxia, Pontocerebellar atrophy, Abnormal pyramidal sign, Head tremor, Chorea, Tremor, Impai... |
OMIM:606002 |
| Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Rigidity, Gait disturbance, Somatic sensory dysfunction, Tremor |
OMIM:603472 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Hypertonia, Ataxia, Dysdiadochokinesis, Oculogyric crisis, Parkinsonism, Abnormality of coordinat... |
ORPHA:352649 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Hypertonia, Oromandibular dystonia, Inability to walk, Blepharospasm, Babinski sign,... |
OMIM:128100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Spastic paraplegia, Tremor, Sh... |
OMIM:300055 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Failure to thrive, Babinski sign, Spastic paraplegia, Tremor, Difficulty walking |
ORPHA:477673 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Motor stereotypy, Short stature, Hyperkinetic movements, Gait disturbance, Tremor, Cerebellar dys... |
ORPHA:457240 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Ataxia, Cerebellar vermis atrophy, Limb ataxia, Vestibular areflexia, Positive Romberg sign, Gait... |
OMIM:614575 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Difficulty walking, Dystonia |
ORPHA:324588 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Hyperactivity, EEG with focal epileptiform discharges, EEG with generalized epileptiform discharg... |
ORPHA:88616 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Gait imbalance, Ataxia, Cerebellar vermis atrophy, Babinski sign, Abnormal pyramidal sign, Head t... |
ORPHA:64753 |
| Primary Dystonia, Dyt2 Type |
|
Torticollis, Blepharospasm, Tremor, Difficulty walking, Involuntary movements, Limb dystonia, Tor... |
ORPHA:99657 |
| Ataxia With Vitamin E Deficiency |
|
Hypertonia, Ataxia, Hemiplegia/hemiparesis, Dysmetria, Dysdiadochokinesis, Abnormal pyramidal sig... |
ORPHA:96 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Myoclonus, Rigidity, Progressive extrapyramidal movement disorde... |
OMIM:612736 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ataxia, Progressive extrapyramidal muscular rigidity, Resting tremor, Chorea, Progressive extrapy... |
ORPHA:401768 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Inability to walk, Postnatal growth retardation, Abnormal cerebellar vermis morphology, D... |
ORPHA:357058 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Ataxia, Choreoathetosis, Dystonia |
OMIM:612126 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Acroparesthesia, Upper motor neuron dysfunction, Clumsiness, Spastic parapare... |
ORPHA:206443 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Blepharospasm, Laryngeal dystonia, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, C... |
OMIM:606159 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Oromandibular dystonia, Ataxia, Loss of ambulation, Babinski sign, Parkinsonism, Abnormal pyramid... |
OMIM:614298 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hypertonia, Short stature, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Tremor |
ORPHA:1192 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Spastic paraplegia, Gait ataxia, Cerebellar atrophy, Lower limb spasticity |
ORPHA:139480 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Failure to thrive, Ataxia, Short stature, Limb hypertonia, Myoclonus, Rigidity, Tremor, Difficult... |
ORPHA:442835 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Intention tremor, Hemiparesis, Tremor, Spasticity |
OMIM:614307 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment |
OMIM:125250 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Resting tremor, Short stature, Parkinsonism, Tremor, Shuffling gait, Obesity, L... |
ORPHA:3077 |
| Brain Small Vessel Disease 2 |
|
Hemiplegia, Polymicrogyria, Spastic tetraplegia, Growth delay, Subcortical heterotopia |
OMIM:614483 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Myoclonus, Tremor, Gait ataxia, Impaired tactile sensation |
OMIM:619092 |
| Saccharopinuria |
|
Short stature, Spastic diplegia, Distal sensory impairment, Tremor, Gait ataxia |
ORPHA:3124 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Hypertonia, Ataxia, Dysmetria, Limb hypertonia, Athetosis, Tremor, Spastic tetraplegia, Cerebella... |
OMIM:617710 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Hearing impairment, Decreased nerve conduction velocity, Abnormal auditory evoked potentials |
OMIM:601455 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hydrocephalus, Gray matter heterotopia, Abnormal cerebellum morphology, Occipital encephalocele, ... |
ORPHA:370959 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity, Falls, T... |
ORPHA:240085 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
4-layered lissencephaly, Cerebellar atrophy, Abnormality of neuronal migration, Microlissencephal... |
ORPHA:89844 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypertonia, Hypoesthesia, Impaired vibratory sensation, Periventricular nodular heterotopia, Hemi... |
OMIM:619737 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Cerebellar vermis atrophy, Cerebral palsy, Stereotypical hand wringing, Abnormality of ne... |
ORPHA:163681 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Positive Romberg sign, Distal sensory impairment, Frequent falls, Tremor, Somatic sensory dysfunc... |
ORPHA:206594 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Freezing of gait, Blepharospasm, Bradykinesia, Extrapyramidal muscular rigidity, Tremor by anatom... |
ORPHA:99750 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... |
OMIM:263200 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Ataxia, Periventricular heterotopia, Hydrocephalus, Rigidity, Cerebellar hypoplasia, Spasticity, ... |
OMIM:618476 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Ataxia, Babinski sign, Aplasia/Hypoplasia of the cerebellum, Tremor, Impaired distal vibration se... |
ORPHA:99027 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Failure to thrive, Inability to walk, Cerebellar vermis atrophy, Dysmetria, App... |
OMIM:617988 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Disproportionate short-limb short stature, Intrauterine growth... |
ORPHA:2772 |
| Neuroferritinopathy |
|
Leg dystonia, Blepharospasm, Bradykinesia, Resting tremor, Babinski sign, Parkinsonism, Chorea, A... |
ORPHA:157846 |
| Hemimegalencephaly |
|
Gray matter heterotopia, Myoclonus, Hemiparesis, Polymicrogyria, Pachygyria |
ORPHA:99802 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Fasciculations, Frequent falls, Tremor, Difficulty walking, Tongue fasciculations |
OMIM:159950 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Parkinsonism... |
OMIM:619725 |
| Gillespie Syndrome |
|
Ataxia, Cerebellar hypoplasia, Cerebellar atrophy, Postural tremor, Slurred speech |
OMIM:206700 |
