| Spinocerebellar Ataxia 43 |
|
Tremor, Gait ataxia, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Distal sensory impairment, R... |
OMIM:617018 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Cerebellar hypoplasia, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia Type 31 |
|
Tremor, Gait ataxia, Impaired vibratory sensation, Cerebellar atrophy, Spasticity |
ORPHA:217012 |
| Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction, Cerebellar atrophy |
ORPHA:423296 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Cerebellar atrophy, Frequent falls |
OMIM:615945 |
| Cerebellar Ataxia And Albinism |
|
Head tremor, Olivopontocerebellar atrophy, Ataxia |
OMIM:258300 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Head tremor, Action tremor, Ataxia, Cerebellar atrophy, Upper limb postural tremor, ... |
ORPHA:98769 |
| Episodic Ataxia, Type 1 |
|
Tremor, Incoordination, Episodic ataxia, Slurred speech, Spastic gait, Babinski sign |
OMIM:160120 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Inability to walk, Pachygyria, Cerebellar hypoplasia, Ataxia, Spastic tetraplegia |
OMIM:618174 |
| Optic Atrophy 2 |
|
Dysdiadochokinesis, Tremor, Babinski sign |
OMIM:311050 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Progressive gait ataxia, Difficulty walking, Spasticity, Progressive cerebellar ataxi... |
ORPHA:284332 |
| Cerebellar Ataxia, Cayman Type |
|
Gait ataxia, Truncal ataxia, Cerebellar hypoplasia, Intention tremor, Broad-based gait, Nonprogre... |
ORPHA:94122 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Tremor, Cogwheel rigidity, Limb dysmetria, Truncal ataxia, Diffuse cerebellar... |
ORPHA:363710 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Dysdiadochokinesis, Cerebellar atrophy, Cerebral palsy, Broad-based gait |
OMIM:605388 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Progressive spastic paraplegia, Ataxia, Somatic sensory dysfunction, ... |
ORPHA:101010 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Loss of ability to walk, Ataxia, Unsteady gait, Cerebellar atrophy, Dysmetria |
OMIM:617917 |
| Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Inability to walk, Spastic paraplegia, Cerebellar hypoplasia, Short stature, Periventricular nodu... |
OMIM:618572 |
| Lichtenstein-Knorr Syndrome |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Ataxia, Action tremor, Cerebellar atrophy, Dysmetri... |
OMIM:616291 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Difficulty walking, Impaired vibration sensation in the lower limbs, Babinski sign, Cerebellar co... |
ORPHA:171622 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia |
OMIM:613227 |
| Lissencephaly 3 |
|
Pachygyria, Gray matter heterotopia, Cerebellar vermis hypoplasia, Ataxia, Polymicrogyria, Spasti... |
OMIM:611603 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Truncal ataxia, Limb ataxia, Cerebellar hypoplasia, Ankle clonus, Unsteady gait, Cerebell... |
OMIM:615768 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Cerebellar atrophy, Ataxia, Spasticity |
OMIM:616494 |
| Lissencephaly, X-Linked, 1 |
|
Pachygyria, Gray matter heterotopia, Postnatal growth retardation, Ataxia, Agyria, Lissencephaly,... |
OMIM:300067 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:616187 |
| Lissencephaly 1 |
|
Pachygyria, Gray matter heterotopia, Spastic tetraparesis, Cerebellar hypoplasia, Agyria, Subcort... |
OMIM:607432 |
| Spinocerebellar Ataxia 45 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:617769 |
| Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:616410 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait, Dysmetria |
OMIM:616127 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Pachygyria, Gray matter heterotopia, Hypertonia, Spastic tetraparesis, Hemiparesis, Abnormality o... |
OMIM:604317 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Tremor, Abnormality of extrapyramidal motor function, Ataxia, Abnormal cerebellum morphology, Cer... |
OMIM:615362 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Gait disturbance, Poor fine motor coordination, Abnormal pyramid... |
ORPHA:98762 |
| Mental Retardation, Autosomal Dominant 45 |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Spinocerebellar Ataxia Type 35 |
|
Pseudobulbar paralysis, Gait ataxia, Difficulty walking, Limb ataxia, Progressive cerebellar atax... |
ORPHA:276193 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Action tremor, U... |
ORPHA:314978 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Truncal ataxia, Abnormal pyramidal sign, Ataxia, Unsteady gait, Cerebellar atrophy, Lower limb sp... |
OMIM:616948 |
| Spinocerebellar Ataxia 29 |
|
Dysdiadochokinesis, Limb ataxia, Ataxia, Cerebellar vermis atrophy, Dysmetria, Intention tremor, ... |
OMIM:117360 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Tremor, Hemiparesis, Ataxia, Cerebellar atrophy |
OMIM:141500 |
| Spinocerebellar Ataxia 23 |
|
Tremor, Gait ataxia, Limb ataxia, Cerebellar atrophy, Impaired vibration sensation in the lower l... |
OMIM:610245 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Gait disturbance, Abn... |
OMIM:614561 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Cerebellar atrophy, Stereotypy, Short stature |
OMIM:617862 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Tremor, Apraxia, Dystonia, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:615889 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Gait ataxia, Clumsiness, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short stature, ... |
OMIM:608029 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Tremor, Progressive gait ataxia, Cerebellar atrophy, Dysmetria, Babinski sign |
OMIM:607458 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Pachygyria, Cerebellar hypoplasia, Cerebellar at... |
OMIM:224050 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Tremor, Gait ataxia, Incoordination, Limb ataxia, Cerebellar hypoplasia, Ataxia, Unsteady gait, D... |
OMIM:213200 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Truncal ataxia |
OMIM:615268 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Tremor, Gait disturbance, Cerebellar atrophy, Dysmetria, Hyperactivity, Rigidity |
OMIM:618090 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Pachygyria, Gray matter heterotopia, Spastic tetraplegia, Agyria, Intrauterine growth retardation... |
OMIM:615411 |
| Spinocerebellar Ataxia 35 |
|
Incoordination, Difficulty walking, Ataxia, Torticollis, Cerebellar atrophy, Dysmetria, Intention... |
OMIM:613908 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Gait ataxia, Isometric tremor, Abnormal pyramidal sign, Ataxia, Bradykinesia, Lar... |
ORPHA:101110 |
| Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Spastic gait, Gait ataxia, Cerebellar atrophy |
OMIM:617133 |
| Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Ataxia, Abnormality of neuronal migration, Stereotypy, Hydrocephalus, Attention deficit hyperacti... |
OMIM:618709 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:615957 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Behr Syndrome |
|
Tremor, Gait disturbance, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Progressive spast... |
OMIM:210000 |
| Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Tremor, Clumsiness, Spastic ataxia, Poor coordination, Spasticity, Ankle clonus, Abnormal cerebel... |
OMIM:270500 |
| Auditory Neuropathy, Autosomal Dominant, 1 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment |
OMIM:609129 |
| Spinocerebellar Ataxia Type 5 |
|
Gait disturbance, Incoordination, Slurred speech, Cerebellar atrophy |
ORPHA:98766 |
| Spinocerebellar Ataxia 31 |
|
Limb ataxia, Cerebellar atrophy, Gait ataxia, Ataxia |
OMIM:117210 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Tremor, Gait ataxia, Spastic ataxia, Head titubation, Cerebellar atrophy, Dysmetria, Babinski sig... |
OMIM:611302 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Action tremor, Intention tremor |
OMIM:302500 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Gait ataxia, Truncal ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Fascic... |
OMIM:613728 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Steppage gait |
OMIM:618387 |
| Spinocerebellar Ataxia Type 14 |
|
Tremor, Gait ataxia, Limb ataxia, Somatic sensory dysfunction, Progressive cerebellar ataxia, Cer... |
ORPHA:98763 |
| Spinocerebellar Ataxia Type 40 |
|
Dysdiadochokinesis, Gait ataxia, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dys... |
ORPHA:423275 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Ataxia, Cerebellar atrophy, Myoclonus, Intention tremor, Rigidity |
OMIM:618876 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Spinocerebellar Ataxia 40 |
|
Dysdiadochokinesis, Spastic paraparesis, Pontocerebellar atrophy, Unsteady gait, Dysmetria, Inten... |
OMIM:616053 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Gait ataxia, Limb ataxia, Growth delay, Ataxia, Cerebellar atrophy, Babinski sign, Spasticity |
OMIM:614322 |
| Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Polymicrogyria, Cerebellar hypoplasia, Ataxia |
OMIM:615771 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Clumsiness, Abnormality of extrapyramidal motor fun... |
ORPHA:79262 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Dysdiadochokinesis, Inability to walk, Tremor, Gait ataxia, Abnormal pyramidal sign, Ataxia, Retr... |
OMIM:614831 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Cerebellar hypoplasia, Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Dysdiadochokinesis, Atrophy of the dentate nucleus, Tremor, Truncal ataxia, Aplasia of the inferi... |
OMIM:610185 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Axial dystonia, Head tremor, Action tremor, Progressive cerebellar ataxia, Ce... |
OMIM:604326 |
| Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Cerebellar atrophy, Gait ataxia, Babinski sign, Short stature |
OMIM:616192 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Dystonia With Cerebellar Atrophy |
|
Dystonia, Craniofacial dystonia, Progressive cerebellar ataxia, Cerebellar atrophy, Torticollis |
OMIM:611694 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypertonia, Cerebellar hypoplasia, Spastic tetraplegia, Periventricular ribbonlike heterotopia, L... |
OMIM:618677 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Pachygyria, Gray matter heterotopia, Spastic tetraplegia, Agyria, Subcortical band heterotopia |
OMIM:615412 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Cogwheel rigidity, Gait ataxia, Truncal ataxia, Limb ataxia, Progressive cerebel... |
OMIM:607346 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Gait ataxia, Palatal myoclonus, Limb ataxia, Abnormal pyramidal sign, Action tremor |
OMIM:608687 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Dysdiadochokinesis, Tremor, Gait ataxia, Dystonia, Limb ataxia, Gait disturbance, Abnormal pyrami... |
OMIM:617145 |
| Microcephaly, Seizures, And Developmental Delay |
|
Cerebellar atrophy, Simplified gyral pattern, Ataxia, Hyperactivity |
OMIM:613402 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Tremor, Dystonia, Spastic ataxia, Limb ataxia, Difficulty walking, Hypertonia... |
ORPHA:251282 |
| Symmetrical Thalamic Calcifications |
|
Hypertonia, Ataxia, Abnormality of neuronal migration, Failure to thrive, Spasticity |
ORPHA:1314 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Unsteady gait, Frequent falls |
ORPHA:494526 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Inability to walk, Dystonia, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Tongue ... |
OMIM:618276 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Clumsiness, Impaired vibratory sensation, Progressive gait ataxia, Limb ataxia, ... |
ORPHA:284324 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Unsteady gait, Frequent falls |
OMIM:616921 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Ataxia, Cerebellar atrophy, Impaired tandem gait, Lower limb spasticity, Myoclonus, Dysme... |
OMIM:619028 |
| Spinocerebellar Ataxia 48 |
|
Tremor, Gait ataxia, Dystonia, Chorea, Ataxia, Cerebellar atrophy, Parkinsonism, Cachexia, Dysmet... |
OMIM:618093 |
| Dystonia 23 |
|
Axial dystonia, Head tremor, Gait disturbance, Writer's cramp, Torticollis, Cerebellar atrophy, M... |
OMIM:614860 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Myoclonus |
OMIM:612016 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Spastic paraplegia, Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Abnorm... |
OMIM:617225 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Gait ataxia, Ataxia, Cerebellar atrophy, Distal sensory impairment, Frequent falls, Spast... |
OMIM:616719 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Gait ataxia, Dystonia, Cerebellar Purkinje layer atrophy, Chorea... |
ORPHA:98756 |
| Spinocerebellar Ataxia 46 |
|
Positive Romberg sign, Gait ataxia, Limb ataxia, Cerebellar atrophy, Dysmetria |
OMIM:617770 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Difficulty walking, Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
ORPHA:85292 |
| Hypermanganesemia With Dystonia 2 |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Ankle clonus, Cerebellar atrophy, Parkinsonism,... |
OMIM:617013 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Gait ataxia, Clumsiness, Impaired vibratory sensation, Limb ataxia, Ataxia, Cere... |
OMIM:609270 |
| X-Linked Progressive Cerebellar Ataxia |
|
Dysdiadochokinesis, Clumsiness, Progressive gait ataxia, Limb ataxia, Progressive cerebellar atax... |
ORPHA:1175 |
| Chudley-Mccullough Syndrome |
|
Gray matter heterotopia, Cerebellar dysplasia, Cerebellar hypoplasia, Polymicrogyria, Hydrocephalus |
OMIM:604213 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Gait ataxia, Cerebellar atrophy, Ataxia |
OMIM:615705 |
| Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Gait disturbance, Tremor, Babinski sign |
OMIM:300660 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Hyperactivity |
ORPHA:436151 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Spastic ataxia, Impaired vibration sensation at ankles, Abnormal pyramidal sign, Ataxia, ... |
OMIM:616795 |
| Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular nodular heterotopia, Tetraparesis, Failure to thrive, Periventricular heterotopia |
OMIM:608097 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Difficulty walking, Limb tremor, Spastic gait, Lower limb spasticity, Aplasia/Hypoplasia of the c... |
ORPHA:401820 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Gait ataxia, Parkinsonism with favorable response to dopaminergic medication, Abnormality... |
OMIM:605407 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor, Gait disturbance, Normal pressure hydrocephalus |
OMIM:611808 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Gait ataxia, Difficulty walking, Poor fine motor coordination, Cerebellar atrophy, Cerebellar ver... |
ORPHA:512260 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Dystonia, Arnold-Chiari type I malformation, Bradykinesia, Ataxia, Short stature, Rigidity |
OMIM:617836 |
| Spinocerebellar Ataxia Type 27 |
|
Tremor, Gait ataxia, Truncal ataxia, Akinesia, Difficulty walking, Limb ataxia, Gait disturbance,... |
ORPHA:98764 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Tremor, Dystonia, Bradykinesia, Ankle clonus, Progressive inability to walk, Cerebellar atrophy, ... |
ORPHA:521406 |
| Spinal Muscular Atrophy, Jokela Type |
|
Difficulty walking, Fasciculations, Tremor, Distal sensory impairment |
OMIM:615048 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Ataxia, Ankle clonus, Spastic gait, Cerebellar atrophy, Lower limb spasticity... |
OMIM:610357 |
| Autosomal Spastic Paraplegia Type 58 |
|
Fasciculations, Tremor, Gait ataxia, Spastic ataxia, Chorea, Erratic myoclonus, Abnormal pyramida... |
ORPHA:397946 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Difficulty walking, Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
| Mental Retardation, Autosomal Dominant 55, With Seizures |
|
Tremor, Gait ataxia |
OMIM:617831 |
| Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Gait disturbance, Hyperkinetic movements, Cerebellar atrophy, Myoclonus, Choreoathetosi... |
OMIM:616981 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tremor, Ataxia, Cerebellar atrophy, Dysmetria, Babinski sign, Tongue fasciculations |
OMIM:618170 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Tremor, Gait ataxia, Dystonia, Ataxia, Myoclonus, Babinski sign, Fasciculations, Frequent falls, ... |
OMIM:607317 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Tremor, Gait ataxia, Poor motor coordination, Oculomotor apraxia, Ataxia, Dilated fourth ventricl... |
ORPHA:1170 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Spastic paraplegia, Dystonia, Knee clonus, Ataxia, Ankle clonus, Cerebellar atrophy, Spastic gait... |
OMIM:607565 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
Urinary bladder sphincter dysfunction, Difficulty walking, Abnormal motor evoked potentials, Atax... |
ORPHA:320401 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Chorea, Ataxia, Bradykinesia, Weight loss, Progressive cerebellar ataxia, ... |
ORPHA:248111 |
| Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Spasticity |
OMIM:618185 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Tremor, Dystonia, Chorea, Hyperkinetic movements, Ataxia, Torticollis |
OMIM:618425 |
| Dystonia, Dopa-Responsive |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Incoordination, Pa... |
OMIM:128230 |
| Joubert Syndrome 24 |
|
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Ataxia, Polymicrogyria, Dysmetria, Spasticity |
OMIM:616654 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Myoclonus, Ataxia |
OMIM:600143 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Tremor, Dystonia, Rigidity, Ataxia, Cerebellar atrophy, Short stature, Choreoathetosis, Spasticity |
OMIM:612438 |
| Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Cerebellar atrophy, Rigidity, Spa... |
ORPHA:385 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616366 |
| Spinocerebellar Ataxia 7 |
|
Tremor, Abnormality of extrapyramidal motor function, Chorea, Progressive cerebellar ataxia, Oliv... |
OMIM:164500 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Inability to walk, Tremor, Gait ataxia, Apraxia, Cerebellar hypoplasia, Cerebellar atrophy, Dysme... |
OMIM:617810 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Gait ataxia, Truncal ataxia, Clumsiness, Slurred speech, Cerebellar vermis hypoplasia, ... |
ORPHA:453521 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysdiadochokinesis, Positive Romberg sign, Limb ataxia, Oculomotor apraxia, Ataxia, Unsteady gait... |
OMIM:617633 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri... |
ORPHA:93109 |
| Spinocerebellar Ataxia 28 |
|
Dystonia, Gait ataxia, Limb ataxia, Hypertonia, Cerebellar atrophy, Parkinsonism, Babinski sign, ... |
OMIM:610246 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Tremor, Dystonia, Chorea, Ataxia, Parkinsonism, Myoclonus, Upper motor neuron dysfunction, Rigidity |
ORPHA:401901 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Apraxia, Gait disturbance, Action tremor, Bradykinesia, Cerebellar atrophy, Parkinsonism, Babinsk... |
OMIM:300423 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Torsion dystonia, Parkinsonism with favorable response to dopaminergic medication, Chorea... |
OMIM:314250 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Dysdiadochokinesis, Gait ataxia, Cerebellar atrophy, Dysmetria, Intention tremor, Spasticity |
OMIM:615386 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Apraxia, Extrapyramidal muscular rigidity, Gait disturbance, Slurred speech, A... |
ORPHA:93952 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Hyperkinetic movements, Abnormality of ne... |
OMIM:300957 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Limb ataxia, Action tremor, Cerebellar atrophy |
OMIM:606658 |
| Spinocerebellar Ataxia 14 |
|
Gait ataxia, Impaired vibration sensation at ankles, Progressive cerebellar ataxia, Cerebellar at... |
OMIM:605361 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy |
OMIM:601382 |
| Spinocerebellar Ataxia 5 |
|
Dysdiadochokinesis, Gait ataxia, Incoordination, Impaired vibratory sensation, Limb ataxia, Cereb... |
OMIM:600224 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Gait ataxia, Resting tremor, Bradykinesia, Craniofacial dystonia, Torticollis, Cerebellar atrophy... |
ORPHA:71517 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Ataxia, Unsteady gait, Cerebellar atrophy |
ORPHA:284271 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Dystonia, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atrophy, Myo... |
ORPHA:139485 |
| Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Spasticity, Pachygyria, Agyria, Gray matter heterotopia |
ORPHA:1084 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Truncal ataxia, Ataxia |
OMIM:617584 |
| Band Heterotopia |
|
Gray matter heterotopia, Polymicrogyria, Subcortical band heterotopia, Hydrocephalus, Spasticity |
OMIM:600348 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
| Congenital Muscular Dystrophy Without Intellectual Disability |
|
Pachygyria, Gray matter heterotopia, Difficulty walking, Cerebellar cyst, Toe walking, Cerebellar... |
ORPHA:370980 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Gait ataxia, Impaired vibratory sensation, Impaired tactile sensation, Difficulty walking, Cerebe... |
ORPHA:98 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ability to walk, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:617916 |
| Neuroectodermal Melanolysosomal Disease |
|
Tremor, Hypertonia, Cerebellar hypoplasia, Ataxia, Abnormal cerebellar vermis morphology, Rigidit... |
ORPHA:33445 |
| Spinocerebellar Ataxia Type 29 |
|
Dysdiadochokinesis, Gait ataxia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Cerebellar vermi... |
ORPHA:208513 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Dysdiadochokinesis, Tremor, Dystonia, Limb dysmetria, Dense calcifications in the cerebellar dent... |
OMIM:213600 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dysdiadochokinesis, Tremor, Dystonia, Apraxia, Spastic paraparesis, Incoordination, Ataxia, Brady... |
OMIM:615157 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Ataxia, Unsteady gait, Short stature, Obesity |
OMIM:614947 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Dysdiadochokinesis, Truncal ataxia, Progressive gait ataxia, Slurred speech, Progressive cerebell... |
ORPHA:352403 |
| Spinocerebellar Ataxia 17 |
|
Positive Romberg sign, Dystonia, Gait ataxia, Apraxia, Chorea, Limb ataxia, Ataxia, Bradykinesia,... |
OMIM:607136 |
| Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Spasticity |
OMIM:614307 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Incoordination, Oculomotor apraxia, Ataxia, Cere... |
OMIM:616204 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Ataxia, Dilated fourth ventricle, Torticollis, Cerebellar vermis atrophy, Small for gestational a... |
OMIM:619054 |
| Spinocerebellar Ataxia Type 26 |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Cerebellar a... |
ORPHA:101112 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Hyperactivity |
OMIM:617113 |
| Ataxia-Telangiectasia-Like Disorder |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Cerebellar vermis hypoplasia, Oculomotor aprax... |
ORPHA:251347 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Tremor, Babinski sign, Dysmetria |
OMIM:612437 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tremor, Clumsiness, Rigidity, Frequent falls, Chorea, Gait disturbance, Abnormal pyramidal sign, ... |
ORPHA:216873 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:610743 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tremor, Incoordination, Frequent falls, Difficulty walking, Paraparesis, Gait disturbance, Toe wa... |
OMIM:302800 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Tremor, Dystonia, Abnormal pyramidal sign, Tetraparesis, Ataxia, Myoclonus, Hyperactivity, Spasti... |
OMIM:615924 |
| Sub-Cortical Nodular Heterotopia |
|
Spasticity, Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration |
ORPHA:101029 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Tremor, Truncal ataxia, Clumsiness, Spastic ataxia, Difficulty walking, H... |
ORPHA:137898 |
| Spinocerebellar Ataxia 27 |
|
Postural tremor, Gait ataxia, Truncal ataxia, Impaired vibratory sensation, Head tremor, Limb ata... |
OMIM:609307 |
| Immunodeficiency, Common Variable, 6 |
|
Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Hepatomegaly, ... |
OMIM:613496 |
| Spinocerebellar Ataxia Type 21 |
|
Tremor, Gait ataxia, Akinesia, Abnormality of extrapyramidal motor function, Progressive cerebell... |
ORPHA:98773 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Growth delay |
OMIM:278780 |
| Spinocerebellar Ataxia 34 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy... |
OMIM:133190 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Tremor, Dystonia, Clumsiness, Chorea, Poor fine motor coordination, Ataxia, Unsteady gait, Cerebe... |
ORPHA:79263 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature |
OMIM:312910 |
| Ravine Syndrome |
|
Abnormal auditory evoked potentials, Ataxia |
ORPHA:99852 |
| Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Dysdiadochokinesis, Clumsiness, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria |
OMIM:256731 |
| Glutathionuria |
|
Tremor |
OMIM:231950 |
| Mental Retardation, Autosomal Dominant 13 |
|
Pachygyria, Gait disturbance, Cerebellar hypoplasia, Abnormality of neuronal migration, Spastic t... |
OMIM:614563 |
| Polymicrogyria, Bilateral Frontoparietal |
|
Truncal ataxia, Hypoplasia of the pons, Hypertonia, Cerebellar hypoplasia, Ankle clonus, Frontal ... |
OMIM:606854 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Dysdiadochokinesis, Diffuse cerebellar atrophy, Spastic dysarthria, Progressive gait ataxia, Diff... |
ORPHA:363429 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Chorea, Abnormal pyramidal sign, Ataxia, Bradykinesia, Abnormal cerebellum morphology, ... |
OMIM:618317 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Dystonia, Torsion dystonia, Involuntary movements, Craniofacial dystonia, Action... |
ORPHA:98807 |
| Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Ataxia, Hyperglycinuria, Prolinuria, EEG abnormality, Hyperactivity |
OMIM:239500 |
| Peroxisome Biogenesis Disorder 5B |
|
Tremor, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Unsteady gait, Dysmetria |
OMIM:614867 |
| Ataxia-Oculomotor Apraxia 3 |
|
Oculomotor apraxia, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Frequent falls |
OMIM:615217 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Tremor, Gait disturbance, Impaired distal vibration sensation, Fasciculations,... |
ORPHA:276435 |
| Corticobasal Syndrome |
|
Limb apraxia, Oromotor apraxia, Tremor, Dystonia, Akinesia, Speech apraxia, Gait disturbance, Bra... |
ORPHA:454887 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Inability to walk, Cerebellar hypoplasia, Oculomotor apraxia, Ataxia, Unsteady gait, Short stature |
OMIM:618273 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Gait ataxia, Action tremor, Cerebellar atrophy, Myoclonus, Intention tremor |
OMIM:254900 |
| Spinocerebellar Ataxia Type 28 |
|
Kinetic tremor, Gait ataxia, Dystonia, Head tremor, Limb ataxia, Parkinsonism, Limb dystonia, Bab... |
ORPHA:101109 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Inability to walk, Hyperactivity |
OMIM:616657 |
| Mental Retardation, Autosomal Recessive 6 |
|
Involuntary movements, Tremor, Myoclonus, Dystonia |
OMIM:611092 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic paraplegia, Limb dysmetria, Head tremor, Upper limb spasticity, Knee clonus, Ankle clonus... |
OMIM:614409 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Dystonia, Truncal ataxia, Limb ataxia, Abnormal pyramidal sign, Head titubation, Cerebellar atrop... |
OMIM:617560 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Gait ataxia, Paralysis, Progressive cerebellar ataxia, Cerebellar atrophy, Dysmetria, Limb fascic... |
OMIM:606183 |
| Spinocerebellar Ataxia Type 17 |
|
Dystonia, Cerebellar Purkinje layer atrophy, Chorea, Gait disturbance, Abnormal pyramidal sign, B... |
ORPHA:98759 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Lower limb spasticity, Spastic gait, Impaired vibration sensation in ... |
OMIM:600363 |
| Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Action tremor, Writer's cramp, Laryngeal dystonia, Upper limb postural tremor, Li... |
ORPHA:464440 |
| Abcd Syndrome |
|
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
| Spinocerebellar Ataxia 26 |
|
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Cerebellar atrophy |
OMIM:609306 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Gait ataxia, Spastic ataxia, Cerebellar atrophy, Dysmetria, Spasticity |
OMIM:611390 |
| Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Oculomotor apraxia, Ataxia, Cerebellar atrophy, Tetraplegia |
OMIM:616267 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Abnormality of extrapyramidal motor function, Chorea, Abnormal pyramidal sign, Ataxia, ... |
OMIM:617672 |
| Lopes-Maciel-Rodan Syndrome |
|
Tremor, Dystonia, Hypertonia, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Unsteady gait,... |
OMIM:617435 |
| Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Dystonia, Rigidity, Hypertonia, Bradykinesia, Ataxia, Parkinsonism, Small for gestational... |
OMIM:261640 |
| Mohr-Tranebjaerg Syndrome |
|
Inability to walk, Tremor, Dystonia, Attention deficit hyperactivity disorder, Absent brainstem a... |
ORPHA:52368 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysdiadochokinesis, Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Dysmetria, Intention tremo... |
OMIM:618356 |
| Spinocerebellar Ataxia 8 |
|
Tremor, Incoordination, Abnormal pyramidal sign, Progressive cerebellar ataxia, Cerebellar atroph... |
OMIM:608768 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of extrapyramidal motor function, Progressive g... |
ORPHA:289494 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Dystonia, Spastic paraparesis, Abnormality of extrapyramidal motor function, Bradykinesia... |
OMIM:300894 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Spastic tetraparesis, Abnormal pyramidal sign, Ataxia, Ankle clonus, Exaggerated star... |
OMIM:618598 |
| Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity |
OMIM:615493 |
| Spinocerebellar Ataxia 4 |
|
Limb dysmetria, Progressive cerebellar ataxia, Cerebellar atrophy, Babinski sign, Distal sensory ... |
OMIM:600223 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormality of... |
OMIM:260300 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Short stature, Ataxia |
ORPHA:1368 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:168100 |
| Myopathy With Extrapyramidal Signs |
|
Tremor, Dystonia, Abnormality of extrapyramidal motor function, Difficulty walking, Chorea, Ataxia |
OMIM:615673 |
| Polymicrogyria Due To Tubb2B Mutation |
|
Oromotor apraxia, Pachygyria, Gray matter heterotopia, Hemiparesis, Polymicrogyria, Cerebellar at... |
ORPHA:300573 |
| Cln5 Disease |
|
Dysdiadochokinesis, Inability to walk, Tremor, Abnormal central motor function, Truncal ataxia, C... |
ORPHA:228360 |
| Lissencephaly 5 |
|
Spastic paraplegia, Type II lissencephaly, Gray matter heterotopia, Cerebellar vermis hypoplasia,... |
OMIM:615191 |
| Urocanase Deficiency |
|
Tremor, Short stature, Ataxia |
OMIM:276880 |
| Spinocerebellar Ataxia Type 36 |
|
Truncal ataxia, Head tremor, Limb ataxia, Difficulty walking, Ataxia, Tongue fasciculations, Loss... |
ORPHA:276198 |
| Spinocerebellar Ataxia 44 |
|
Dysdiadochokinesis, Gait ataxia, Ataxia, Cerebellar atrophy, Dysmetria, Frequent falls, Spasticity |
OMIM:617691 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Tremor, Dystonia, Abnormal pyramidal sign, Bradykinesia, Parkinsonism, Rigidity, Shuffling gait, ... |
OMIM:615528 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Truncal ataxia, Reduced sperm motility, Head tremor, Impaired vibration sensation at ankles, Diff... |
ORPHA:320391 |
| Spinocerebellar Ataxia Type 19/22 |
|
Cogwheel rigidity, Truncal ataxia, Impaired vibration sensation at ankles, Limb ataxia, Difficult... |
ORPHA:98772 |
| Huntington Disease |
|
Gait ataxia, Chorea, Bradykinesia, Cerebellar atrophy, Rigidity |
OMIM:143100 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity, Macrotia |
OMIM:300928 |
| Gerstmann-Straussler Disease |
|
Tremor, Gait ataxia, Truncal ataxia, Apraxia, Limb ataxia, Bradykinesia, Weight loss, Cerebellar ... |
OMIM:137440 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Tremor, Ataxia, Impaired pain sensation |
ORPHA:101078 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Tremor, Gait ataxia, Truncal ataxia, Dystonia, Limb ataxia, Oculomotor apraxia, Ataxia, Cerebella... |
OMIM:208920 |
| Hsd10 Disease |
|
Tremor, Rigidity, Spastic paraparesis, Gait disturbance, Postnatal growth retardation, Ataxia, My... |
ORPHA:391417 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Difficulty walking, Tremor, Myoclonus, Ataxia |
OMIM:614018 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity |
ORPHA:356996 |
| Spinocerebellar Ataxia 2 |
|
Dysdiadochokinesis, Postural tremor, Impaired vibratory sensation, Limb ataxia, Oculomotor apraxi... |
OMIM:183090 |
| Insulin-Like Growth Factor I Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:608747 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Tremor, Dystonia, Growth delay, Oculomotor apraxia, Ataxia, Hyperactivity, Choreoathetosis, Spast... |
OMIM:612716 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Type II lissencephaly, Gray matter heterotopia, Cerebellar hypoplasia, Dysgyria, Hydrocephalus |
ORPHA:352682 |
| Jaberi-Elahi Syndrome |
|
Inability to walk, Tremor, Gait ataxia, Dystonia, Cerebellar atrophy, Dysmetria, Failure to thriv... |
OMIM:617988 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Gait ataxia, Difficulty walking, Cerebellar hypoplasia, Oculomotor apraxia, Cerebellar at... |
ORPHA:529665 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Dystonia, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Atypical Juvenile Parkinsonism |
|
Inability to walk, Dystonia, Gait ataxia, Akinesia, Abnormal pyramidal sign, Resting tremor, Brad... |
ORPHA:391411 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Cerebellar atrophy, Ataxia, Distal sensory impairment |
OMIM:607250 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Tremor, Spastic paraparesis, Difficulty walking, Gait disturbance, Somatic sen... |
ORPHA:101077 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Eyelid myoclonus, Ataxia |
OMIM:616421 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb apraxia, Tremor, Apraxia, Parkinsonism with favorable response to dopaminergic medication, A... |
ORPHA:240103 |
| Maternal Hyperthermia-Induced Birth Defects |
|
Intrauterine growth retardation, Hypertonia, Short stature, Abnormality of neuronal migration |
ORPHA:2216 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Broad-based gait |
ORPHA:210128 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Truncal ataxia, Progressive gait ataxia, Limb ataxia, Slurred speech, Ankle clonus, Progressive c... |
ORPHA:284289 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Gait disturbance, Ataxia, Abnormal auditory evoked ... |
OMIM:125250 |
| Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Sensory ataxia, Gait ataxia, Decreased body weight, Cerebellar atrophy, Babinski sign, Short stature |
ORPHA:445062 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Tremor, Dystonia, Gait disturbance, Bradykinesia, Parkinsonism, Rigidity |
OMIM:600116 |
| Dystonia 27 |
|
Postural tremor, Action tremor, Writer's cramp, Laryngeal dystonia, Oromandibular dystonia |
OMIM:616411 |
| Atypical Rett Syndrome |
|
Inability to walk, Pill-rolling tremor, Dystonia, Tremor, Gait ataxia, Apraxia, Gait disturbance,... |
ORPHA:3095 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Ankle clonus, Unsteady gait, Cerebellar atrophy, Impaired vibration sensation in the lowe... |
OMIM:159550 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Tremor, Dystonia, Difficulty walking, Oculogyric crisis, Cerebellar atrophy, D... |
ORPHA:330050 |
| Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... |
OMIM:616648 |
| Spinocerebellar Ataxia Type 18 |
|
Gait ataxia, Head tremor, Somatic sensory dysfunction, Cerebellar atrophy, Titubation, Dysmetria |
ORPHA:98771 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Bradykinesia, Falls, Parkinsonism, Short stepped shuffling gait, Rigidity, Shuffl... |
ORPHA:306692 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Dystonia, Parkinsonism with favorable response to dopaminergic medicatio... |
ORPHA:314632 |
| Huntington Disease-Like 2 |
|
Dystonia, Chorea, Action tremor, Bradykinesia, Weight loss, Rigidity |
OMIM:606438 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Dystonia, Ataxia, Delayed puberty, Abnormal cerebellum morphology, Cerebellar at... |
OMIM:607694 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Inability to walk, Difficulty walking, Cerebellar hypoplasia, Ataxia, Lower limb spasticity, Macr... |
ORPHA:280210 |
| Nephronophthisis 16 |
|
Nephronophthisis, Renal insufficiency, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:615382 |
| Leukodystrophy, Hypomyelinating, 21 |
|
Dystonia, Growth delay, Tetraparesis, Ataxia, Cerebellar atrophy, Failure to thrive, Athetosis |
OMIM:619310 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Spastic paraplegia, Tetraparesis, Head titubation, Ataxia, Ankle clonus, Cerebellar atrophy, Dysm... |
OMIM:615491 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Tremor, Gait ataxia, Intention tremor, Hypertonia, Ataxia, Cerebellar atrophy, Cerebellar gliosis... |
OMIM:616505 |
| Spinocerebellar Ataxia Type 1 |
|
Dysdiadochokinesis, Postural tremor, Dystonia, Chorea, Gait disturbance, Slurred speech, Bradykin... |
ORPHA:98755 |
| Fragile X Tremor/Ataxia Syndrome |
|
Dysdiadochokinesis, Postural tremor, Gait ataxia, Poor fine motor coordination, Resting tremor, A... |
OMIM:300623 |
| Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Pachygyria, Periventricular heterotopia, Cerebellar hypoplasia, Ataxia, Decreased body weight, In... |
ORPHA:255138 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
| Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
| Poretti-Boltshauser Syndrome |
|
Gray matter heterotopia, Cerebellar cyst, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Ocu... |
OMIM:615960 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia, Hyperactivity |
OMIM:300983 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Pachygyria, Cerebellar hypoplasia, Abnormality of neuronal migration, Babinski sign, Short stature |
OMIM:608840 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Gait disturbance, Hearing impairment, Abnormal auditory evoked potentials, Decreased nerve conduc... |
OMIM:601455 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Dystonia, Spastic paraparesis, Bradykinesia, Cerebellar atrophy, Parkinsonism, Rigidity |
ORPHA:329284 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Inability to walk, Dystonia, Abnormal pyramidal sign, Ataxia, Cerebellar atrophy, Short stature, ... |
OMIM:617951 |
| Boucher-Neuhauser Syndrome |
|
Gait ataxia, Spinocerebellar atrophy, Ataxia, Cerebellar atrophy, Intention tremor, Spasticity |
OMIM:215470 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Inability to walk, Tremor, Gait ataxia, Truncal ataxia, Dystonia, Rigidity, Hypertonia, Hemiballi... |
OMIM:618877 |
| Parkinsonism With Spasticity, X-Linked |
|
Cogwheel rigidity, Resting tremor, Bradykinesia, Parkinsonism, Babinski sign, Spasticity |
OMIM:300911 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Cerebellar dysplasia, Head titubation, Ataxia, Oculomotor apraxia, Dilated fourt... |
ORPHA:370022 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Positive Romberg sign, Vestibular areflexia, Gait ataxia, Limb ataxia, Ataxia, Cerebellar atrophy |
OMIM:614575 |
| Autosomal Dominant Cerebellar Ataxia |
|
Pseudobulbar paralysis, Dystonia, Abnormality of extrapyramidal motor function, Palatal myoclonus... |
ORPHA:99 |
| Spinocerebellar Ataxia Type 10 |
|
Dysdiadochokinesis, Kinetic tremor, Gait ataxia, Progressive cerebellar ataxia, Unsteady gait, Ce... |
ORPHA:98761 |
| Spinocerebellar Ataxia 21 |
|
Postural tremor, Dystonia, Gait ataxia, Cogwheel rigidity, Akinesia, Abnormality of extrapyramida... |
OMIM:607454 |
| Chiari Malformation Type Ii |
|
Spina bifida, Gray matter heterotopia, Ataxia, Opisthotonus, Arnold-Chiari malformation, Myelomen... |
OMIM:207950 |
| Gabriele-De Vries Syndrome |
|
Intrauterine growth retardation, Tremor, Waddling gait, Dystonia |
OMIM:617557 |
| Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:301840 |
| Parkinson Disease 22, Autosomal Dominant |
|
Gait disturbance, Tremor, Resting tremor, Bradykinesia |
OMIM:616710 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypertonia, Ataxia, Cerebellar atrophy, Myoclonus, Failure to thrive, Spasticity |
OMIM:618426 |
| Myopathy, Spheroid Body |
|
Tremor, Waddling gait, Broad-based gait |
OMIM:182920 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Hypertonia, Distal sensory impairment, Babinski sign, Steppage gait, Spasticity |
OMIM:609260 |
| Glut1 Deficiency Syndrome 2 |
|
Tremor, Choreoathetosis, Ataxia, Dystonia |
OMIM:612126 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Spastic ataxia, Oculomotor apraxia, Ataxia, Ce... |
OMIM:614487 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Babinski sign... |
OMIM:612674 |
| Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Incoordination, Eyelid myoclonus, Pontocerebellar atrophy, Cerebellar hypoplasia, Abnorma... |
OMIM:618060 |
| Acalvaria |
|
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Holoprosencephaly, Abnormality of neuronal mi... |
ORPHA:945 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Ataxia, Cerebellar atrophy, Babinski sign, Progressive spastic paraplegia |
OMIM:612020 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Tremor, Paraparesis, Gait disturbance, Ataxia, Impaired pain sensation |
ORPHA:99014 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Gait ataxia, Truncal ataxia, Chorea, Myoclonus |
OMIM:618587 |
| Periventricular Nodular Heterotopia 7 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:617201 |
| Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Chorea, Cerebellar hypoplasia, Opisthotonus, Cerebellar atrophy, Limb hypertonia, Babin... |
OMIM:612389 |
| Cach Syndrome |
|
Truncal ataxia, Limb ataxia, Growth delay, Spastic diplegia, Hemiparesis, Cerebellar atrophy, Dys... |
ORPHA:135 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Limb ataxia, Cerebellar atrophy, Truncal ataxia, Ataxia |
OMIM:614229 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Positive Romberg sign, Postural tremor, Dystonia, Clumsiness, Cerebellar hypoplasia, Ataxia, Dela... |
ORPHA:447896 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
| Spinocerebellar Ataxia 10 |
|
Dysdiadochokinesis, Gait ataxia, Incoordination, Abnormality of extrapyramidal motor function, Li... |
OMIM:603516 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Inability to walk, Tremor, Somatic sensory dysfunction, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Tremor, Myoclonus, Torticollis |
OMIM:159900 |
| Mannosidosis, Beta A, Lysosomal |
|
Hearing impairment, Increased urinary disaccharide excretion, Hyperactivity |
OMIM:248510 |
| Spinocerebellar Ataxia 13 |
|
Gait ataxia, Limb dysmetria, Limb ataxia, Abnormal pyramidal sign, Progressive cerebellar ataxia,... |
OMIM:605259 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| Spinocerebellar Ataxia Type 42 |
|
Gait ataxia, Head tremor, Impaired vibration sensation at ankles, Resting tremor, Spastic gait, U... |
ORPHA:458803 |
| Aa Amyloidosis |
|
Acute kidney injury, Renal amyloidosis, Enlarged kidney, Nephropathy, Hepatomegaly, Chronic kidne... |
ORPHA:85445 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication |
OMIM:610297 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cogwheel rigidity, Paresthesia, Parkinsonism with favorable response to dopaminergic medication, ... |
ORPHA:254886 |
| Aminoacylase 1 Deficiency |
|
Sensorineural hearing impairment, Hyperactivity |
OMIM:609924 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Tremor, Gait ataxia, Delayed puberty, Polymicrogyria, Cerebellar vermis atroph... |
OMIM:300354 |
| Lissencephaly 6 With Microcephaly |
|
Pachygyria, Periventricular heterotopia, Polymicrogyria, Cerebellar atrophy, Limb hypertonia, Sim... |
OMIM:616212 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dysdiadochokinesis, Dystonia, Spastic paraparesis, Cerebellar hypoplasia, Oculomotor apraxia, Ata... |
ORPHA:313772 |
| Joubert Syndrome |
|
Tremor, Gait disturbance, Cerebellar vermis hypoplasia, Oculomotor apraxia, Ataxia, Abnormality o... |
ORPHA:475 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Macrotia |
OMIM:301013 |
| Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ability to walk, Rigidity, Dystonia |
OMIM:615010 |
| Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, EEG abnormality, Facial palsy |
OMIM:617519 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Dysdiadochokinesis, Gait ataxia, Akinesia, Abnormal vestibulo-ocular reflex, Cerebellar cortical ... |
ORPHA:247234 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Inability to walk, Dystonia, Gait ataxia, Chorea, Cerebellar atrophy, Stereotypy, Stereotypical h... |
OMIM:618917 |
| Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Gait disturbance, Blepharospasm, Ataxia, Cerebellar atrophy, Periventricular nodular ... |
ORPHA:352582 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysdiadochokinesis, Intention tremor, Ataxia, Cerebellar atrophy, Dysmetria, Short stature, Spast... |
OMIM:614381 |
| Spinocerebellar Ataxia Type 8 |
|
Dystonia, Gait ataxia, Impaired vibratory sensation, Limb ataxia, Spasticity, Ataxia, Bradykinesi... |
ORPHA:98760 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Dysdiadochokinesis, Dystonia, Gait ataxia, Chorea, Oculomotor apraxia, Cerebellar atrophy, Lower ... |
OMIM:604391 |
| X-Linked Dystonia-Parkinsonism |
|
Torsion dystonia, Frequent falls, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:53351 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Tremor, Distal sensory impairment |
OMIM:616668 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Decreased body weight, Tremor, Short stature, Ataxia |
OMIM:278760 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Tremor, Ataxia, Spastic gait, Parkinsonism, Babinski sign, Choreoathetosis, Shuffling gait |
OMIM:300055 |
| Bilateral Striopallidodentate Calcinosis |
|
Intrauterine growth retardation, Abnormality of neuronal migration |
ORPHA:1980 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Tremor, Dystonia, Akinesia, Parkinsonism with favorable response to dopaminer... |
OMIM:606693 |
| Dentatorubral Pallidoluysian Atrophy |
|
Dysdiadochokinesis, Gait ataxia, Truncal ataxia, Dyssynergia, Limb ataxia, Blepharospasm, Ataxia,... |
ORPHA:101 |
| Nephronophthisis 2 |
|
Nephronophthisis, Enlarged kidney, Absence of renal corticomedullary differentiation, Stage 5 chr... |
OMIM:602088 |
| Spinocerebellar Ataxia 36 |
|
Gait ataxia, Truncal ataxia, Incoordination, Limb ataxia, Hypertonia, Ataxia, Cerebellar atrophy,... |
OMIM:614153 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Gait ataxia, Upper limb postural tremor, Action tremor, Distal sensory impairment |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Prolonged brainstem... |
OMIM:601596 |
| Parkinsonism-Dystonia, Infantile, 1 |
|
Tremor, Chorea, Hypertonia, Abnormal pyramidal sign, Hyperkinetic movements, Bradykinesia, Parkin... |
OMIM:613135 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Gait ataxia, Dystonia, Head tremor, Chorea, Progressive gait ataxia, Limb ataxia, Pontoce... |
OMIM:606002 |
| Neuronal Intranuclear Inclusion Disease |
|
Tremor, Gait disturbance, Ataxia, Somatic sensory dysfunction, Rigidity |
OMIM:603472 |
| Spinocerebellar Ataxia Type 13 |
|
Gait ataxia, Clumsiness, Difficulty walking, Limb ataxia, Bradykinesia, Torticollis, Cerebellar a... |
ORPHA:98768 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Tremor, Resting tremor, Obesity, Lower limb spasticity, Parkinsonism, Short stature, Hyperactivit... |
ORPHA:3077 |
| Gillespie Syndrome |
|
Postural tremor, Slurred speech, Cerebellar hypoplasia, Ataxia |
OMIM:206700 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Tremor, Gait ataxia, Hypertonia, Abnormal cerebellum morphology, Cerebellar atrophy, Dysmetria, T... |
OMIM:618056 |
| Parkinson Disease 14, Autosomal Recessive |
|
Tremor, Dystonia, Clumsiness, Apraxia, Bradykinesia, Parkinsonism, Rigidity, Spasticity |
OMIM:612953 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Upper limb spasticity, Gait disturbance, Hyperkinetic movements, Cerebellar d... |
ORPHA:457240 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Inability to walk, Tremor, Clumsiness, Difficulty walking, Eyelid myoclonus, Waddling gait, Myocl... |
ORPHA:2590 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Spastic paraplegia, Tremor, Difficulty walking, Babinski sign, Failure to thrive, Broad-based gait |
ORPHA:477673 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Tremor, Clumsiness, Spastic paraparesis, Impaired tactile sensation, Difficulty walki... |
ORPHA:206443 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dysdiadochokinesis, Tremor, Dystonia, Abnormality of coordination, Gait disturbance, Hypertonia, ... |
ORPHA:352649 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Dystonia, Head tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia, Soma... |
ORPHA:64753 |
| Leber Congenital Amaurosis |
|
Hemiplegia/hemiparesis, Aplasia/Hypoplasia of the cerebellar vermis, Abnormality of neuronal migr... |
ORPHA:65 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism with favorable response to dopaminergic medi... |
OMIM:607688 |
| Subependymal Nodular Heterotopia |
|
Myelomeningocele, Gray matter heterotopia, Abnormality of neuronal migration, Acroparesthesia, Me... |
ORPHA:101030 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Tremor, Dystonia, Rigidity, Chorea, Blepharospasm, Ataxia, Bradykinesia, Writer's cramp, Laryngea... |
OMIM:606159 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Abnormality of coordination, Difficulty walking, Ataxia, Unsteady gait, Limb hypertonia, ... |
ORPHA:442835 |
| Ataxia With Vitamin E Deficiency |
|
Dysdiadochokinesis, Tremor, Dystonia, Gait disturbance, Hypertonia, Abnormal pyramidal sign, Atax... |
ORPHA:96 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Spastic paraplegia, Gait ataxia, Lower limb spasticity, Cerebellar atrophy, Babinski sign |
ORPHA:139480 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Difficulty walking, Chorea, Resting tremor, Limb hypertonia, Myoclonus |
ORPHA:324588 |
| Caribbean Parkinsonism |
|
Dystonia, Apraxia, Progressive gait ataxia, Action tremor, Bradykinesia, Weakness due to upper mo... |
ORPHA:97355 |
| Pelizaeus-Merzbacher Disease |
|
Tremor, Dystonia, Progressive spastic quadriplegia, Abnormal pyramidal sign, Head titubation, Ata... |
OMIM:312080 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Dystonia, Progressive extrapyramidal movement disorder, Difficulty walking, Chorea, Resting tremo... |
ORPHA:401768 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Tremor, Gait disturbance, Hypertonia, Short stature |
ORPHA:1192 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Head tremor, Difficulty walking, Craniofacial dystonia, Writer's cramp, Limb trem... |
ORPHA:420492 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617182 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Tremor, Myoclonus, Writer's cramp |
OMIM:608105 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Uraciluria, Lethargy, Optic atrophy, Hyperactivity |
OMIM:274270 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Tremor, Myoclonus |
OMIM:613608 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Ataxia, Myoclonus, Stereotypy |
OMIM:619092 |
| Primary Dystonia, Dyt2 Type |
|
Tremor, Torsion dystonia, Difficulty walking, Blepharospasm, Torticollis, Generalized dystonia, L... |
ORPHA:99657 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Pachygyria, Type II lissencephaly, Hydrocephalus, Cerebellar cyst, Cerebellar hypoplasia, Cerebel... |
OMIM:613153 |
| Pyruvate Dehydrogenase Deficiency |
|
Tremor, Dystonia, Lethargy, Gait disturbance, Growth delay, Abnormal pyramidal sign, Ataxia, Intr... |
|
