Spinocerebellar Ataxia Type 5 |
|
Slurred speech, Cerebellar atrophy, Incoordination, Gait disturbance |
ORPHA:98766 |
Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Spastic tetraplegia, Ataxia, Pachygyria, Hypoplasia of the brainstem, Inability to walk, Cerebell... |
OMIM:618174 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Spastic tetraparesis, Pachygyria, Hypoplasia of the brainstem, Agyr... |
OMIM:607432 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Cerebellar atrophy, Broad-based gait |
OMIM:605388 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Short stature, Periventricular nodular heterotopia, Inability to walk, Cerebellar hypoplasia, Spa... |
OMIM:618572 |
Spinocerebellar Ataxia 13 |
|
Optic atrophy, Cerebellar atrophy, Limb dysmetria, Progressive cerebellar ataxia, Morphological a... |
OMIM:605259 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spasticity, Abnormal pons morphology, Babinski sign, Impaired vibration sensation in ... |
ORPHA:171622 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Cerebellar vermis atrophy, Ataxia, Distal sensory impairment, Limb ataxia, Gait... |
OMIM:617018 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:616410 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Tremor, Gait ataxia, Difficulty walking, Somatic sensory dysfunction |
ORPHA:423296 |
Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:617769 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve cond... |
OMIM:603516 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Acroparesthesia, Limb myoclonus, Paresthesia, Abnormality of extrapyramidal motor function, Morph... |
ORPHA:356 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Tremor, Impaired vibratory sensation, Spasticity, Gait ataxia |
ORPHA:217012 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Cerebellar atrophy, Truncal ataxia |
OMIM:615268 |
Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Diffuse cerebellar atrophy, Spastic gait, Lower limb spasticity, Dis... |
ORPHA:101010 |
Spastic Paraplegia 2, X-Linked |
|
Optic atrophy, Babinski sign, Degeneration of the lateral corticospinal tracts, Dysmetria, Spasti... |
OMIM:312920 |
Lissencephaly 3 |
|
Spastic tetraplegia, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Pachygyria, Polym... |
OMIM:611603 |
Cerebellar Ataxia And Albinism |
|
Head tremor, Ataxia, Olivopontocerebellar atrophy |
OMIM:258300 |
Adult Krabbe Disease |
|
Clumsiness, Peripheral demyelination, Prolonged brainstem auditory evoked potentials, Hemiplegia,... |
ORPHA:206448 |
Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy, Gait ataxia |
ORPHA:458798 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Ataxia, Inability to walk, Cerebellar atrophy |
OMIM:619333 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, G... |
OMIM:616192 |
Cerebellar hypoplasia with endosteal sclerosis |
|
Ataxia, Short stature, Cerebellar hypoplasia |
OMIM:213002 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617133 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Hypoplasia of the brainstem, Polymicrogyria, Cerebellar hypoplasia |
OMIM:615771 |
Spinocerebellar Ataxia 11 |
|
Progressive cerebellar ataxia, Cerebellar atrophy |
OMIM:604432 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Spastic gait, Lower limb spasticity, Ankle clonus, Spastic par... |
OMIM:611252 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
Intellectual Developmental Disorder, Autosomal Recessive 53 |
|
Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia |
OMIM:616917 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, Stereotypy, Trem... |
OMIM:617862 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615957 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Spastic tetraplegia, Periventricular ribbonlike heterotopia, Hypoplasia o... |
OMIM:618677 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tip-toe gait, Spasticity, Difficulty ... |
OMIM:615681 |
Spinocerebellar Ataxia 31 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:117210 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Spinocerebellar Ataxia 30 |
|
Ataxia, Cerebellar atrophy |
OMIM:613371 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Tremor, Progressive cerebellar ataxia, Incoordination, Spasticity, Morphologi... |
OMIM:608768 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Cerebellar atrophy, Short stature, Dysmetria, Progressive gait ataxia,... |
ORPHA:284332 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Babinski sign, Cerebellar atrophy, Tremor, Hypogonadism, Truncal ataxia, Cerebellar hypoplasia, S... |
OMIM:615768 |
Chudley-Mccullough Syndrome |
|
Cerebellar dysplasia, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Gray matter heterotopia |
OMIM:604213 |
Microlissencephaly |
|
Cerebellar atrophy, Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Hypertonia... |
ORPHA:1083 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Gait disturbance, Babinski sign, Ataxia, Spastic paraplegia, Abnormal cerebellum morphology |
OMIM:618418 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Cerebellar hypoplasia, Broad-... |
ORPHA:94122 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Steppage gait, Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neu... |
OMIM:256850 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Tremor, Unsteady gait |
OMIM:617917 |
Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Diffuse cerebellar atrophy, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria... |
ORPHA:363710 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Ataxia, Cerebellar atrophy, Spasticity |
OMIM:616494 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Short stature, Dysmetria, Simplified gyral pattern, Intention tremor, Pachygy... |
OMIM:224050 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Short stature, Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ata... |
OMIM:616291 |
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar dysplasia, Polymicrogyria, Cerebellar hypoplasia |
OMIM:616531 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:616187 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Babinski sign, Cerebellar atrophy, Growth delay, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:614322 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Dystonia, Cerebellar atrophy, Tremor, Ataxia, Apraxia, Spasticity, Premature ovarian insufficiency |
OMIM:615889 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Limb ataxia, Difficulty walking, Truncal ataxia |
ORPHA:363432 |
Spastic Ataxia 9, Autosomal Recessive |
|
Babinski sign, Growth delay, Frequent falls, Cerebellar vermis atrophy, Ataxia, Spasticity, Abnor... |
OMIM:618438 |
Dystonia With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Torticollis, Craniofacial dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
Lissencephaly 4 |
|
Growth delay, Short stature, Simplified gyral pattern, Hypertonia, Cerebellar hypoplasia, Lissenc... |
OMIM:614019 |
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Spastic tetraplegia, Pachygyria, Hypoplasia of the brainstem, Hypertonia, Pol... |
OMIM:618730 |
L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Spastic tetrapar... |
OMIM:236792 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Involuntary movements, Short stature, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypopla... |
OMIM:618325 |
Spinocerebellar Ataxia 29 |
|
Dysmetria, Impaired tandem gait, Intention tremor, Cerebellar vermis hypoplasia, Cerebellar vermi... |
OMIM:117360 |
Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Cerebellar atrophy, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention trem... |
ORPHA:276193 |
Gordon Holmes Syndrome |
|
Infertility, Cerebellar atrophy, Oligomenorrhea, Hypogonadotropic hypogonadism, Ataxia |
OMIM:212840 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, U... |
OMIM:616948 |
Combined Oxidative Phosphorylation Deficiency 39 |
|
Involuntary movements, Dystonia, Intrauterine growth retardation, Simplified gyral pattern, Pachy... |
OMIM:618397 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Ataxia, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Cerebellar atrophy, Short stature, Dysmetria, Intention tremor, Ataxia, Spasticity, G... |
OMIM:608029 |
Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Unsteady gait, Ataxia, Cerebellar atrophy, Gait ataxia |
OMIM:615705 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Frequent falls, Dysmetria, Fasciculations, Sp... |
OMIM:611302 |
Spinocerebellar Ataxia 35 |
|
Babinski sign, Cerebellar atrophy, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordinati... |
OMIM:613908 |
Spinocerebellar Ataxia 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Tremor, Dysdiadochokinesis |
OMIM:607458 |
Microcephaly, Seizures, And Developmental Delay |
|
Hyperactivity, Cerebellar atrophy, Ataxia, Simplified gyral pattern |
OMIM:613402 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Cerebellar hypoplasia, Unsteady gait |
OMIM:616127 |
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency |
|
Abnormal neuron morphology, Simplified gyral pattern, Abnormal cerebellum morphology |
ORPHA:329228 |
Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Short stature, Ataxia, Postnatal growth retardation, Cerebellar hypoplasia |
OMIM:616113 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk |
OMIM:618090 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Cerebellar atrophy, Tremor by anatomical site, B... |
ORPHA:98762 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Cerebellar atrophy, Action tremor, Intention tremor |
OMIM:302500 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Impaired vibration sensation in the lower l... |
OMIM:610245 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Limb ataxia, Gait ataxia |
OMIM:617770 |
Behr Syndrome |
|
Progressive spasticity, Babinski sign, Gait disturbance, Cerebellar atrophy, Dysmetria, Tremor, A... |
OMIM:210000 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Decreased nerve conduction velocity, Spastic tetraplegia, Atax... |
OMIM:256600 |
Spinocerebellar Ataxia 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
OMIM:616053 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Rigidity, Myoclonus, Intention tremor, Cerebellar vermis hypoplasia, Ataxia |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gai... |
OMIM:613728 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Cerebellar vermis hypoplasia, N... |
ORPHA:314978 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Gait disturbance, Optic atrophy, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Ataxia, Sp... |
ORPHA:2572 |
Spinocerebellar Ataxia Type 40 |
|
Pontocerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unste... |
ORPHA:423275 |
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation |
|
Clumsiness, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, Ankle clonus, Sp... |
OMIM:270500 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Cerebellar vermis atrophy, Inability to walk, Ataxia, ... |
OMIM:619389 |
Dystonia 23 |
|
Gait disturbance, Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Hea... |
OMIM:614860 |
Neurodegeneration, Infantile-Onset, Biotin-Responsive |
|
Cerebellar atrophy, Cerebral palsy, Hypoplasia of the pons, Polymicrogyria, Spasticity |
OMIM:618973 |
Huntington Disease-Like 1 |
|
Clumsiness, Involuntary movements, Gait disturbance, Cerebellar atrophy, Jerky head movements, Fr... |
ORPHA:157941 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Gait disturbance, Spastic tetraplegia, Pachygyria, Hypoplasia ... |
OMIM:614563 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Gray matter heteroto... |
ORPHA:352682 |
Spinocerebellar Ataxia Type 43 |
|
Cogwheel rigidity, Distal sensory impairment, Cerebellar vermis atrophy, Progressive cerebellar a... |
ORPHA:497764 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Short stature, Dysmetria, Tremor, Ataxia, Incoordination, Cerebellar hypoplasia, Spasticity, Unst... |
OMIM:213200 |
Mast Syndrome |
|
Gait disturbance, Babinski sign, Apraxia, Spastic paraplegia, Spastic paraparesis, Abnormal cereb... |
OMIM:248900 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Dysmetria, Steppage gait, Tremor, Ataxia, Distal sensory impairment, Gait ataxia |
OMIM:618387 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, Cerebellar atrophy |
OMIM:614706 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus, Cerebellar atrophy |
OMIM:600143 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Cerebellar dysplasia, Type II lissencephaly |
OMIM:615041 |
Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Cerebellar vermis atrophy, Progressive cerebellar ataxia, Limb ataxi... |
ORPHA:98763 |
Hypermanganesemia With Dystonia 2 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Bradykines... |
OMIM:617013 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonus, Abnormality of extrapyramidal motor function, Ataxia, Parkinsonism, Abnormal cerebellu... |
OMIM:162350 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Aplasia/Hypoplasia o... |
ORPHA:79262 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle ... |
OMIM:610357 |
Neurodegeneration With Brain Iron Accumulation |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor function, Spa... |
ORPHA:385 |
Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Ataxia, Hypertonia, Cerebellar atrophy, Spasticity |
OMIM:613925 |
Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
Developmental And Epileptic Encephalopathy 76 |
|
Lower limb spasticity, Inability to walk, Cerebellar atrophy, Upper limb spasticity |
OMIM:618468 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Spastic ataxia, Progressive spas... |
ORPHA:496756 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Babinski sign, Spastic gait, Limb tremor, Lower limb spasticity, Aplasia/Hypoplasia of the cerebe... |
ORPHA:401820 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Cerebellar atrophy, Gait ataxia |
OMIM:617915 |
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Short stature, Oculomotor apraxia, Hypoplasia of the brainstem, Inability to walk, Ataxia, Cerebe... |
OMIM:618273 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Short stature, Dilated fourth ventricle, Dysmetria, Inferior vermis hypoplasi... |
OMIM:614831 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Short stature, Dysmetria, Tremor, Aplasia of the inferior half of the cerebel... |
OMIM:610185 |
Spinocerebellar Ataxia 28 |
|
Dystonia, Babinski sign, Cerebellar atrophy, Hypertonia, Spasticity, Parkinsonism, Limb ataxia, G... |
OMIM:610246 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Cerebellar cyst, Cerebellar atrophy, Frequent falls, Pachygyria, Tip-toe gait, Gray matter hetero... |
ORPHA:370980 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Loss of ability to walk, Ataxia, Spasticity |
OMIM:617916 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia, Cerebellar hypoplasia |
OMIM:617584 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Babinski sign, Dystonia, Cerebellar atrophy, Scissor gait, Loss of ambulation, Oromandibular dyst... |
ORPHA:521406 |
Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Cerebellar atrophy, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movement... |
OMIM:616981 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Cerebellar atrophy, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Unilateral polymicrogyria, Hemiparesis, Pachygyria, Cerebellar hypoplasia, Lissencephaly |
OMIM:610031 |
Joubert Syndrome 25 |
|
Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia,... |
OMIM:607346 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Impaired distal tactile sensation, Impaired pain sensation, Diffuse cerebellar atr... |
ORPHA:101111 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Postural tremor, Dystonia, Kinetic tremor, Chorea, Abnormal substanti... |
ORPHA:98756 |
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Cerebellar atrophy, Truncal ataxia |
OMIM:611726 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Abnormal pyramidal sign |
OMIM:612016 |
Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia |
ORPHA:1178 |
Lissencephaly 5 |
|
Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Spastic paraplegia, Cerebellar ve... |
OMIM:615191 |
Spinocerebellar Ataxia 14 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Dysmetria, Focal dystonia, Progressiv... |
OMIM:605361 |
Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
Spinocerebellar Ataxia Type 26 |
|
Babinski sign, Cerebellar atrophy, Progressive gait ataxia, Progressive cerebellar ataxia, Trunca... |
ORPHA:101112 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Dystonia, Cerebellar atrophy, Ataxia, Inability to walk, Tetraparesis, Tongue fasciculations, Spa... |
OMIM:618276 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Optic atrophy, Babinski sign, Cerebellar atrophy, Degeneration of the lateral corticospinal tract... |
OMIM:607259 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait disturbance, Dystonia, Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Dysdiadoch... |
OMIM:617145 |
Leukodystrophy, Hypomyelinating, 14 |
|
Dystonia, Cerebellar atrophy, Growth delay, Spasticity |
OMIM:617899 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Choreoathetosis |
OMIM:301020 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor aprax... |
OMIM:617633 |
Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign, Atrophy of the dentate nucleus |
OMIM:125370 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, At... |
OMIM:619028 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Rigidity, Falls, Bradykinesia, Impaired tand... |
OMIM:300423 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Cerebellar atrophy, Knee clonus, Spastic gait, Lower limb spasticity, Im... |
OMIM:607565 |
Polymicrogyria Due To Tubb2B Mutation |
|
Oromotor apraxia, Cerebellar atrophy, Perisylvian polymicrogyria, Hypoplasia of the pons, Hemipar... |
ORPHA:300573 |
Joubert Syndrome 24 |
|
Gait disturbance, Dysmetria, Pachygyria, Ataxia, Polymicrogyria, Cerebellar hypoplasia, Spasticity |
OMIM:616654 |
Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Ataxia, Cerebellar hypoplasia |
OMIM:618383 |
Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, And Cerebellar Atrophy |
|
Cerebellar atrophy, Postnatal growth retardation, Short stature |
OMIM:608278 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Frequent falls, Intention tremor, Cerebellar vermis atrophy, Poor fine motor ... |
ORPHA:512260 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Simplified gyral pattern, Hemiparesis, Spastic tetraparesis, P... |
OMIM:604317 |
Nescav Syndrome |
|
Babinski sign, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Spasticity |
OMIM:614255 |
Spinocerebellar Ataxia Type 32 |
|
Testicular atrophy, Cerebellar atrophy, Azoospermia, Progressive cerebellar ataxia, Male infertility |
ORPHA:276183 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Distal sensory impairment, Spasticity, Gait a... |
OMIM:616719 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Impaired pain sensation, Ataxia, Abolished vibration sense |
OMIM:608703 |
Dandy-Walker Syndrome |
|
Partial absence of cerebellar vermis, Agenesis of cerebellar vermis, Dilated fourth ventricle, Hy... |
OMIM:220200 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Dysmetria, Progressive gait ataxi... |
ORPHA:284324 |
Polymicrogyria, Bilateral Frontoparietal |
|
Babinski sign, Perisylvian polymicrogyria, Dysmetria, Hypoplasia of the pons, Hypoplasia of the b... |
OMIM:606854 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Dysmetria, Ataxia, Spasticity, Limb ataxia, Gait ataxia |
OMIM:610743 |
Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Distal sensory impairment, Oculomotor apraxia, Ataxia |
OMIM:615217 |
Camos Syndrome |
|
Ataxia, Aplasia/Hypoplasia of the cerebellum, Progressive extrapyramidal movement disorder, Spast... |
ORPHA:83472 |
Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Cerebellar atrophy |
OMIM:618741 |
Ataxia-Oculomotor Apraxia 4 |
|
Dystonia, Cerebellar atrophy, Tetraplegia, Ataxia, Oculomotor apraxia |
OMIM:616267 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:609306 |
Pontocerebellar Hypoplasia, Type 1E |
|
Optic atrophy, Cerebellar atrophy, Hypoplasia of the pons, Myoclonus, Cerebellar hypoplasia |
OMIM:619303 |
X-Linked Progressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Axonal loss, Frequent falls, Dysmetria, Spastic dysarthria, Progressiv... |
ORPHA:1175 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Cerebellar atrophy, Ataxia, Impaired vibratory sensat... |
OMIM:609270 |
Spinocerebellar Ataxia 4 |
|
Babinski sign, Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Progressive cerebel... |
OMIM:600223 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Stereotypy, Ataxia, Hydrocephalus, Attention deficit hyperacti... |
OMIM:618709 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Frequent falls, Torticollis, Spasticity, Gait ataxia |
OMIM:618369 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Cerebellar atrophy, Short stature, Waddling gait, Spasticity |
OMIM:619090 |
Autosomal Recessive Spastic Paraplegia Type 74 |
|
Babinski sign, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking |
ORPHA:468661 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Molar tooth sign on MRI, Gray matter heterotopia, ... |
OMIM:617622 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Tongue fasciculations |
OMIM:618170 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Babinski sign, Growth delay, Ataxia, Spasticity, Difficulty walking, Abnormal cerebellum morphology |
OMIM:618242 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Short stature, Frequent falls, Torticollis, Dysmetria,... |
ORPHA:397946 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Oc... |
OMIM:615960 |
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Intrauterine growth retardation, Spastic tetraplegia, Pachygyria, A... |
OMIM:615411 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Parkinsonism, Babinski sign, Cerebellar atrophy, Falls, Bradykinesia, Spastic tetraplegia, Distal... |
OMIM:617225 |
Spinocerebellar Ataxia Type 27 |
|
Gait disturbance, Cerebellar atrophy, Hand tremor, Tremor, Truncal ataxia, Akinesia, Limb ataxia,... |
ORPHA:98764 |
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth |
|
Slurred speech, Cerebellar atrophy, Gait ataxia |
OMIM:619323 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Cerebellar vermis atrophy, Oculomotor apraxia, Dysd... |
OMIM:616204 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Clumsiness, Cerebellar atrophy, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
Bilateral Frontoparietal Polymicrogyria |
|
Gait imbalance, Cerebellar dysplasia, Hypoplasia of the pons, Cerebellar vermis hypoplasia, Hypop... |
ORPHA:101070 |
Spinocerebellar Ataxia 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Spastic gait, Spastic ... |
OMIM:616795 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis |
OMIM:311050 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Head titubation, Cerebellar dysplasia, Dilated fourth ventricle, Inferior vermis... |
ORPHA:370022 |
Spinocerebellar Ataxia Type 17 |
|
Involuntary movements, Gait disturbance, Dystonia, Cerebellar atrophy, Parkinsonism, Rigidity, Wr... |
ORPHA:98759 |
Dystonia 31 |
|
Arm dystonia, Writer's cramp, Craniofacial dystonia, Difficulty walking, Generalized dystonia, Pa... |
OMIM:619565 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:615386 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Babinski sign, Spastic tetraplegia, Tetraplegia, Morphological abnormality of the corticospinal t... |
OMIM:607225 |
Leukodystrophy, Hypomyelinating, 6 |
|
Dystonia, Cerebellar atrophy, Rigidity, Choreoathetosis, Short stature, Tremor, Ataxia, Spasticity |
OMIM:612438 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Ataxia, Postnatal growth retardation, Agyria, Spasticity, Gray matter heterotopia, Li... |
OMIM:300067 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Babinski sign, Cerebellar atrophy, Dysmetria, Lower limb spasticity, In... |
ORPHA:98 |
Spastic Ataxia 3, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Spastic ataxia, Spasticity, Gait ataxia |
OMIM:611390 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Attention deficit hyperactivity disorder, Short stature, Cerebellar hyp... |
OMIM:608716 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Poor motor coordination, Short stature, Dilated fourth ventricle, Dysmetria, ... |
ORPHA:1170 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Babinski sign, Short stature, Pachygyria, Hypoplasia of the br... |
OMIM:608840 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Steppage gait, Ataxia, Distal sensory impairment, Cerebellar atrophy |
OMIM:607250 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Cerebellar vermis atrophy, Inability to walk, Ataxia, Gait ataxia |
OMIM:618501 |
Friedreich Ataxia 2 |
|
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... |
OMIM:601992 |
Acalvaria |
|
Abnormality of neuronal migration, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Spina... |
ORPHA:945 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Microlissencephaly, Short stature, Simplified gyral pattern, Hypoplasia of the brainstem, Spastic... |
OMIM:617090 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism, Abnorma... |
OMIM:618317 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Dystonia, Cerebellar atrophy, Head titubation, Truncal ataxia, Spasticity, Abnormal pyramidal sig... |
OMIM:617560 |
Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Cerebellar atrophy, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gai... |
OMIM:606183 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Dystonia, Cerebellar atrophy, Myoclonus, Tremor, Progressive cerebellar ataxia, Abnormal pyramida... |
ORPHA:139485 |
Spinocerebellar Ataxia 48 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Chorea, Tremor, Ataxia, Parkinsonism, Gai... |
OMIM:618093 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Torticollis, Bradykinesia, Craniofacial dystonia, Resting tremor, Parkinsonis... |
ORPHA:71517 |
Gómez-López-Hernández Syndrome |
|
Short stature, Impaired pain sensation, Abnormal brainstem morphology, Cerebellar vermis hypoplas... |
ORPHA:1532 |
Spinocerebellar Ataxia 7 |
|
Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tremor, Progressi... |
OMIM:164500 |
Dystonia 16 |
|
Postural tremor, Gait disturbance, Involuntary movements, Parkinsonism, Bradykinesia, Retrocollis... |
OMIM:612067 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Cerebellar atrophy, Truncal ataxia, Action tremor, Limb ataxia, Gait ataxia |
OMIM:606658 |
Dystonia 9 |
|
Dystonia, Paresthesia, Choreoathetosis, Morphological abnormality of the pyramidal tract, Episodi... |
OMIM:601042 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy |
OMIM:610003 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Hand tremor, Spastic dysarthria, Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar verm... |
ORPHA:401830 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Abnormal head movements, Progressive gait ataxia, Progressive cerebel... |
ORPHA:247815 |
Mental Retardation, Autosomal Dominant 45 |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617600 |
Juvenile Huntington Disease |
|
Dystonia, Cerebellar atrophy, Rigidity, Chorea, Weight loss, Myoclonus, Bradykinesia, Hyperactivi... |
ORPHA:248111 |
Spinocerebellar Ataxia, X-Linked 4 |
|
Tremor, Ataxia, Morphological abnormality of the pyramidal tract, Abnormal pyramidal sign |
OMIM:301840 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Cerebellar atrophy, Rigidity, Bradykinesia, Tremor, Iron accumulation in substantia nig... |
ORPHA:329284 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Cerebellar vermis atrophy, Oculomotor apraxia, A... |
ORPHA:208513 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Bradykinesia, Gait ataxia |
OMIM:143100 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis... |
OMIM:600224 |
Aminoacylase 1 Deficiency |
|
Hyperactivity, Cerebellar atrophy |
OMIM:609924 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Ataxia, Spasticity, Cerebellar atrophy, Spastic tetraplegia |
OMIM:617207 |
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Ataxia, Cerebellar atrophy |
OMIM:618879 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Polymicrogyria, Cerebellar hypoplasia |
ORPHA:171703 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesi... |
OMIM:300894 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Dystonia, Dysmetria, Spastic dysarthria, Spastic ataxia, Progressive cerebellar ataxia, Cerebella... |
ORPHA:314603 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Inability to walk, Hypoplasia of the brainstem, Cerebellar atrophy |
OMIM:618324 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cerebellar ... |
ORPHA:352403 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Babinski sign, Growth delay, Progressive truncal ataxia, Short stature, Dysmetria, Diffuse cerebe... |
ORPHA:363429 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2 |
|
Inability to walk, Cerebellar atrophy, Spasticity |
OMIM:617086 |
3-Methylglutaconic Aciduria, Type Vii |
|
Cerebellar atrophy, Growth delay, Abnormality of extrapyramidal motor function, Spasticity, Abnor... |
OMIM:616271 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Dysmetria, Tremor, Inability to walk, Cerebellar hypoplasia, Apraxia, Spastic... |
OMIM:617810 |
Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity, Decreased body weight |
OMIM:616311 |
Joubert Syndrome 32 |
|
Ataxia, Oculomotor apraxia, Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology |
OMIM:617757 |
Ataxia-Telangiectasia-Like Disorder |
|
Dystonia, Cerebellar atrophy, Short stature, Frequent falls, Dilated fourth ventricle, Dysmetria,... |
ORPHA:251347 |
Hereditary Central Diabetes Insipidus |
|
Weight loss, Polydipsia, Lethargy |
ORPHA:30925 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Huntington Disease |
|
Clumsiness, Gait disturbance, Dystonia, Clonus, Gait imbalance, Involuntary movements, Polyphagia... |
ORPHA:399 |
Meckel Syndrome 13 |
|
Oculomotor apraxia, Molar tooth sign on MRI, Ataxia, Cerebellar hypoplasia |
OMIM:617562 |
Lopes-Maciel-Rodan Syndrome |
|
Dystonia, Cerebellar atrophy, Bradykinesia, Tremor, Hypertonia, Ankle clonus, Spasticity, Unstead... |
OMIM:617435 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Babinski sign, Cerebellar atrophy, Short stature, Atrophy/Degeneration affecting the brainstem, S... |
ORPHA:445062 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Babinski sign, Dystonia, Frequent falls, Dysmetria, Intention tremor, Cerebellar verm... |
ORPHA:453521 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Dandy-Walker malformation, Cerebellar atrophy, Growth delay, Short stature, Spastic tetraparesis,... |
ORPHA:438178 |
Neuroectodermal Melanolysosomal Disease |
|
Rigidity, Tremor, Ataxia, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal cerebellar verm... |
ORPHA:33445 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Gait disturbance, Dystonia, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Cerebellar atrophy, Amenorrhea, Ataxia, Premature ovarian insufficiency, Difficulty walking |
OMIM:619425 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Babinski sign, Cerebellar atrophy, Motor axonal neuropathy, Lower limb spasticity, Atrophy of the... |
ORPHA:139480 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Short stature, Intrauterine growth retardation, Cerebellar hypoplasia |
OMIM:616051 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Morphol... |
OMIM:613135 |
Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Infertility, Cerebellar atrophy, Azoospermia, Ataxia |
OMIM:613909 |
Spinocerebellar Ataxia Type 19/22 |
|
Impaired vibration sensation at ankles, Cerebellar atrophy, Poor coordination, Cogwheel rigidity,... |
ORPHA:98772 |
Pontocerebellar Hypoplasia, Type 1A |
|
Hypoplasia of the pons, Fasciculations, Ataxia, Cerebellar hypoplasia, Hypoplasia of the ventral ... |
OMIM:607596 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... |
OMIM:613153 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Cerebellar atrophy, Short stature, Spastic dysarthria, Stereotypy, Waddl... |
ORPHA:280763 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Infe... |
OMIM:614409 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Gait disturbance, Babinski sign, Tremor, Tip-toe gait, Abnormal brainstem MRI signal intensity, M... |
ORPHA:83629 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Gait disturbance, Babinski sign, Cerebellar atrophy, Ataxia, Progressive spastic paraplegia |
OMIM:612020 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Truncal ataxia, Short stature |
OMIM:613612 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Dysmetria, Head tremor, Titubation, Gait ataxia, Somatic sensory dysfunction |
ORPHA:98771 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Babinski sign, Dystonia, Cerebellar atrophy, Dysmetria, Bradykinesia, Tremor, Ataxia, Olivopontoc... |
OMIM:615157 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Ataxia, Limb ataxia, Cerebellar atrophy, Truncal ataxia |
OMIM:614229 |
Leukodystrophy, Hypomyelinating, 18 |
|
Progressive spasticity, Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degenerat... |
OMIM:618404 |
Lissencephaly 2 |
|
Hypoplasia of the pons, Lissencephaly, 4-layered lissencephaly, Cerebellar hypoplasia |
OMIM:257320 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Ataxia, Cerebellar atrophy |
OMIM:610951 |
Pontocerebellar Hypoplasia, Type 2D |
|
Chorea, Clonus, Cerebellar atrophy, Spastic tetraplegia |
OMIM:613811 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Dystonia, Cerebellar atrophy, Chorea, Stereotypy, Inability to walk, Stereotypical hand wringing,... |
OMIM:618917 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Impaired distal proprioception, Steppage gait, Spastic dysarthria, Impaired vibration sensation i... |
ORPHA:94124 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Cerebellar atrophy, Tremor, Inability to walk, Oculogyric crisis, Delayed menarche, Dif... |
ORPHA:330050 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abn... |
OMIM:133190 |
Friedreich Ataxia And Congenital Glaucoma |
|
Babinski sign, Abnormality of the medulla oblongata, Abnormality of the dorsal column of the spin... |
OMIM:229310 |
Band Heterotopia |
|
Subcortical band heterotopia, Hydrocephalus, Polymicrogyria, Spasticity, Gray matter heterotopia |
OMIM:600348 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Babinski sign, Choreoathetosis, Dilated fourth ventricle, Torticollis, Frequent falls, Cerebellar... |
OMIM:619054 |
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Hyperactivity, Inability to walk, Babinski sign, Spastic tetraplegia |
OMIM:616657 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined |
|
Impaired proprioception, Babinski sign, Abnormality of the medulla oblongata, Abnormality of the ... |
OMIM:302900 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Spastic gait, Spastic dys... |
ORPHA:251282 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal sperm morphology, Babinski sign, Impaired vibration sensation at ankles, Cerebellar atro... |
ORPHA:320391 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Spastic tetraplegia, Pachygyria, Agyria, Gray matter heterotopia |
OMIM:615412 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Abnormality of extrapyramidal motor function, Tremor, Cerebellar vermis atrophy, Progre... |
ORPHA:98773 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Facial palsy, Truncal ti... |
OMIM:607483 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Ataxia, Unsteady gait |
OMIM:614867 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dystonia, Babinski sign, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the brains... |
OMIM:612319 |
X-Linked Intellectual Disability, Hedera Type |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Extrapyramidal mu... |
ORPHA:93952 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Ataxia, Cerebellar hypoplasia |
ORPHA:2246 |
Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, S... |
ORPHA:100989 |
Episodic Ataxia Type 6 |
|
Slurred speech, Ataxia, Cerebellar atrophy, Hemiplegia |
ORPHA:209967 |
Spinocerebellar Ataxia 27 |
|
Postural tremor, Cerebellar atrophy, Ataxia, Impaired vibratory sensation, Truncal ataxia, Head t... |
OMIM:609307 |
Pontocerebellar Hypoplasia, Type 14 |
|
Dystonia, Hypoplasia of the pons, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of th... |
OMIM:619301 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Babinski sign, Gait disturbance, Cerebellar atrophy, Frequent falls, Dysmetria, Hand tremor, Para... |
OMIM:302800 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Cerebellar atrophy, Intrauterine growth retardation, Short stature |
OMIM:618541 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Babinski sign, Knee clonus, Cerebellar atrophy, Upper limb spasticity, Short stature, Dysmetria, ... |
OMIM:275900 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Spasticity, Large for gestational age |
ORPHA:356996 |
Huntington Disease-Like 3 |
|
Dystonia, Chorea, Abnormality of extrapyramidal motor function, Ataxia, Spasticity, Morphological... |
OMIM:604802 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Ataxia, Spasticity |
OMIM:618088 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Athetosis, Gait disturbance, Dystonia, Rigidity, Chorea, Bradykinesia, Limb dysmetr... |
OMIM:213600 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Dystonia, Jerky head movements, Torticollis, Focal dyston... |
ORPHA:98807 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Cerebellar atrophy, Myoclonus, Intention tremor, Action tremor, Gait ataxia |
OMIM:254900 |
4H Leukodystrophy |
|
Dystonia, Cerebellar atrophy, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Abnormalit... |
ORPHA:289494 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Spinocerebellar atrophy, Hypogonadotropic hypogonadism, Intention tremor, Ata... |
OMIM:215470 |
Spinocerebellar Ataxia 17 |
|
Dystonia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Positive Romb... |
OMIM:607136 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Dystonia, Cerebellar atrophy, Myoclonic spasms, Dysmetria, Chorea, Myoclonus, Tremor,... |
ORPHA:79263 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Absent pubertal growth spurt, Gait ataxia, Short stature |
ORPHA:438134 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract,... |
OMIM:608627 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, Inability t... |
ORPHA:280234 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Tremor |
OMIM:300660 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Oculomotor apraxia, Molar t... |
OMIM:609583 |
Ataxia-Pancytopenia Syndrome |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Distal sensory impairment, Impaired vibration sensa... |
OMIM:159550 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Clumsiness, Progressive spasticity, Babinski sign, Cerebellar atrophy, Impaired distal propriocep... |
ORPHA:137898 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gait disturbance, Short stature, Tremor, Cerebellar vermis hyp... |
OMIM:300957 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Obesity, Childhood-onset truncal obesity, Polyphagia |
ORPHA:71529 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Babinski sign, Dystonia, Cerebellar atrophy, Short stature, Dysmetria, Hypogonad... |
OMIM:607694 |
Lissencephaly 6 With Microcephaly |
|
Cerebellar atrophy, Limb hypertonia, Microlissencephaly, Periventricular heterotopia, Simplified ... |
OMIM:616212 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Ataxia, Spasticity |
OMIM:617954 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... |
OMIM:609195 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Hydrocephalus, Polymicrogyria, Cer... |
OMIM:615181 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Ataxia, Broad-based gait, Obesity |
ORPHA:411515 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Dysmetria, Cerebellar atrophy, Gait ataxia, Short stature |
ORPHA:320385 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis, Hemiplegia/hemipa... |
ORPHA:65 |
Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language |
|
Involuntary movements, Dystonia, Cerebellar atrophy, Chorea, Ataxia, Inability to walk |
OMIM:617804 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1 |
|
Cerebellar dysplasia, Inability to walk, Cerebellar hypoplasia |
OMIM:613155 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Intrauterine growth retardation, Cerebellar atrophy, Short stature, Simplified gyral pattern |
OMIM:616171 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Fascicula... |
OMIM:618598 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Impaired proprioception, Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts,... |
ORPHA:100999 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Rigidity, Tremor, Morphological abnormality of the pyramidal tract, Abnormal pyrami... |
OMIM:260540 |
Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Head titubation, Dysmetria, Fasciculations, Intention tremor, ... |
OMIM:615491 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Babinski sign, Ataxia, Spasticity |
OMIM:611105 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Intrauterine growth retardation, Cerebellar hypoplasia |
OMIM:616353 |
Spinocerebellar Ataxia Type 42 |
|
Babinski sign, Impaired vibration sensation at ankles, Cerebellar atrophy, Atrophy/Degeneration a... |
ORPHA:458803 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Myoclonus, Pachygyria, Polymicrogyria, Lissencephaly |
OMIM:617507 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Parkinsonism, Dystonia, Cerebellar atrophy, Rigidity, Chorea, Abnormality of extrapyramidal motor... |
OMIM:617672 |
Pontocerebellar Hypoplasia, Type 2B |
|
Dystonia, Clonus, Cerebellar atrophy, Limb hypertonia, Opisthotonus, Babinski sign, Chorea, Extra... |
OMIM:612389 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14 |
|
Hypoplasia of the pons, Inability to walk, Ataxia, Cerebellar hypoplasia |
OMIM:615350 |
Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Cerebellar atrophy, Broad-based gait, Stereotypy |
OMIM:301029 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Impaired proprioception, Gait disturbance, Cerebellar atrophy, Gait imbalance, D... |
ORPHA:98755 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... |
ORPHA:171612 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Difficulty walking, Vocal cord paresis |
OMIM:158580 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Intrauterine growth retardation, Periventricular heterotopia, Pachygyria, Hypoplasia of the brain... |
ORPHA:255138 |
Cln5 Disease |
|
Clumsiness, Poor gross motor coordination, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Hyperac... |
ORPHA:228360 |
Pontocerebellar Hypoplasia, Type 15 |
|
Dystonia, Spastic tetraplegia, Simplified gyral pattern, Hypoplasia of the brainstem, Hypertonia,... |
OMIM:619302 |
Spinocerebellar Ataxia, Autosomal Recessive 28 |
|
Short stature, Truncal titubation, Cerebellar vermis hypoplasia, Poor fine motor coordination, Ab... |
OMIM:618800 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Clonus, Poor coordination, Decreased nerve conduction velocity, Impaired vibratory sensation, Spa... |
OMIM:238970 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spinal cord lesion, Spas... |
ORPHA:171863 |
Autosomal Recessive Spastic Paraplegia Type 78 |
|
Dystonia, Babinski sign, Peripheral axonal neuropathy, Cerebellar atrophy, Progressive extrapyram... |
ORPHA:513436 |
Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Cerebellar atrophy, Short stature |
OMIM:618006 |
Familial Congenital Mirror Movements |
|
Clumsiness, Cerebral palsy, Morphological abnormality of the corticospinal tract, Poor fine motor... |
ORPHA:238722 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Dysmetria, Tremor, Oculomotor apraxia, Cerebellar hypoplasia, Spasticity, Gai... |
ORPHA:529665 |
Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, D... |
OMIM:614487 |
Spinocerebellar Ataxia Type 8 |
|
Dystonia, Cerebellar atrophy, Rigidity, Hypoplasia of the pons, Spastic dysarthria, Bradykinesia,... |
ORPHA:98760 |
Fragile X Tremor/Ataxia Syndrome |
|
Postural tremor, Cerebellar atrophy, Dysmetria, Bradykinesia, Intention tremor, Impaired tandem g... |
OMIM:300623 |
Leukodystrophy, Hypomyelinating, 21 |
|
Athetosis, Dystonia, Cerebellar atrophy, Growth delay, Hypogonadotropic hypogonadism, Ataxia, Tet... |
OMIM:619310 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia |
OMIM:617113 |
Congenital Disorder Of Glycosylation, Type Iin |
|
Inability to walk, Cerebellar atrophy, Short stature |
OMIM:616721 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature, Hypogonadism |
OMIM:312910 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Dystonia, Cerebellar atrophy, Head titubation, Ataxia, Abnormal pyramidal... |
ORPHA:527497 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Growth delay |
OMIM:300804 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Cerebellar atrophy, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Distal sensory... |
OMIM:208920 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Dystonia, Cerebellar atrophy, Frequent falls, Chorea, Lower limb spasticity, Oculomotor apraxia, ... |
OMIM:604391 |
3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Fasciculations, Intention tremor, Progres... |
ORPHA:284289 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Paresthesia, Frequent falls, Intention tremor, Progressive cerebellar ataxia, Cerebellar vermis a... |
ORPHA:466794 |
Periventricular Nodular Heterotopia 8 |
|
Periventricular nodular heterotopia, Attention deficit hyperactivity disorder, Spasticity |
OMIM:618185 |
Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Loss of Purkinje cells in the cerebellar v... |
ORPHA:276198 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Disproportionate short-l... |
ORPHA:2772 |
Central Diabetes Insipidus |
|
Failure to thrive, Weight loss, Polydipsia, Lethargy |
ORPHA:178029 |
Familial Paroxysmal Ataxia |
|
Dystonia, Torticollis, Cerebellar vermis atrophy, Ataxia, Hemiplegia |
ORPHA:97 |
Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Abnormality of extrapyramidal motor function, Inability to walk, Spasticity, Morphologi... |
OMIM:225750 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Short stature, Stereotypy |
OMIM:300271 |
Mental Retardation, Autosomal Recessive 37 |
|
Hyperactivity, Spasticity |
OMIM:615493 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Dysmetria, Ataxia, Cerebellar atrophy, Broad-based gait |
OMIM:618098 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:369873 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity, Polyphagia, Stereotypy |
OMIM:613886 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Corticospinal tract hypoplasia, Hydrocephalus, Spasticity, Spastic paraplegia, Agenesis of corpus... |
OMIM:307000 |
Familial Infantile Myoclonic Epilepsy |
|
Clumsiness, Gait disturbance, Cerebellar atrophy, Limb myoclonus, Periventricular nodular heterot... |
ORPHA:352582 |
Ataxia-Pancytopenia Syndrome |
|
Gait disturbance, Cerebellar atrophy, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait |
ORPHA:2585 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Cerebellar atrophy, Intrauterine growth retardation, Microliss... |
ORPHA:89844 |
Developmental And Epileptic Encephalopathy 47 |
|
Gait disturbance, Limb ataxia, Cerebellar atrophy, Inability to walk |
OMIM:617166 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Polyphagia, Failure to thrive, Obesity, Childhood-onset truncal obesity |
ORPHA:71526 |
Crome Syndrome |
|
Cerebellar dysplasia, Short stature |
OMIM:218900 |
Mental Retardation, Autosomal Dominant 52 |
|
Hyperactivity |
OMIM:617796 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Cerebellar atrophy, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxi... |
ORPHA:313772 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Pontocerebellar atrophy, Tremor, Oculomotor apraxia, Eyelid myoclonus, Ataxia, Incoordination, Ce... |
OMIM:618060 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Pseudobulbar paralysis, Amyotrophic lateral scl... |
OMIM:105400 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Gray matter heterotopia, Pachygyria, Agyria, Spasticity |
ORPHA:1084 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Spastic dysarthria, Spastic paraparesis |
OMIM:616680 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Babinski sign, Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign |
OMIM:616479 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Gait disturbance, Upper limb spasticity, Short stature, Cerebellar dysplasia, Stereotypy, Tremor,... |
ORPHA:457240 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Degeneration of the lateral corticospinal tracts, Weakness due to upper motor neur... |
ORPHA:275872 |
Joubert Syndrome 17 |
|
Oculomotor apraxia, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Ataxia |
OMIM:614615 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Intention tremor, Distal sensory impairment, Ataxia... |
OMIM:612674 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Babinski sign, Cerebellar atrophy, Dysmetria, Myoclonus, Intention tremor, Ataxia, Hypertonia, Dy... |
OMIM:618356 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Type II lissencephaly, Hydrocephalus, Cerebellar hypoplasia |
OMIM:614830 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Myoclonus, Ataxia, Hypertonia, Spasticity |
OMIM:618426 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Positive Romberg sign, Ataxia, Limb ataxia, Gait ataxia |
OMIM:614575 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Anencephaly, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hy... |
OMIM:615287 |
Spinocerebellar Ataxia 2 |
|
Postural tremor, Rigidity, Dilated fourth ventricle, Dysmetria, Myoclonus, Bradykinesia, Fascicul... |
OMIM:183090 |
N-Acetylaspartate Deficiency |
|
Unsteady gait, Truncal ataxia, Short stature, Stereotypy |
OMIM:614063 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Short stature, Dysmetria, Hypogonadotropic hypogonadism, Intention tremor, At... |
OMIM:614381 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Babinski sign, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, Steppage gait, Myoclonus, Inten... |
OMIM:616505 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Short stature, Spastic diplegia, Primary amenorrhea, Gait ataxia |
OMIM:233400 |
Spinocerebellar Ataxia Type 13 |
|
Clumsiness, Cerebellar atrophy, Short stature, Torticollis, Myoclonus, Bradykinesia, Impaired dis... |
ORPHA:98768 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Intrauterine growth retardation, Spastic tetraplegia, Spasticity, Limb dystonia |
OMIM:619125 |
Mental Retardation, Autosomal Dominant 48 |
|
Dysgenesis of the cerebellar vermis, Cerebellar dysplasia, Dilated fourth ventricle, Stereotypy, ... |
OMIM:617751 |
East Syndrome |
|
Cerebellar atrophy, Polydipsia, Salt craving, Ataxia, Inability to walk, Action tremor, Difficult... |
ORPHA:199343 |
Leukodystrophy, Hypomyelinating, 5 |
|
Babinski sign, Truncal titubation, Intention tremor, Loss of ability to walk, Inability to walk, ... |
OMIM:610532 |
Spinocerebellar Ataxia 36 |
|
Babinski sign, Cerebellar atrophy, Fasciculations, Ataxia, Hypertonia, Incoordination, Truncal at... |
OMIM:614153 |
Insulin-Like Growth Factor I Deficiency |
|
Hyperactivity, Decreased body weight |
OMIM:608747 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Limb tremor, Focal dy... |
ORPHA:420492 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Chorea, Tremor, Unsteady gait, Hemiballismus |
ORPHA:494526 |
Filippi Syndrome |
|
Dystonia, Intrauterine growth retardation, Cerebellar atrophy, Postnatal growth retardation |
OMIM:272440 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
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Cerebellar atrophy, Dysmetria, Truncal titubation, Tremor, Hypertonia, Gait ataxia, Abnormal cere... |
OMIM:618056 |
Graves Disease, Susceptibility To, 1 |
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Hyperactivity, Weight loss, Polyphagia |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 5 |
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Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Spastic tetraplegia |
OMIM:613477 |
Spastic Paraplegia 6, Autosomal Dominant |
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Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... |
OMIM:600363 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
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Gait disturbance, Cerebellar atrophy, Ataxia |
ORPHA:85317 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
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Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
Autosomal Dominant Spastic Paraplegia Type 73 |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb spastic... |
ORPHA:444099 |
Spastic Ataxia, Charlevoix-Saguenay Type |
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Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... |
OMIM:270550 |
Galloway-Mowat Syndrome 2, X-Linked |
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Cerebellar atrophy, Intrauterine growth retardation, Short stature, Dysmetria, Polymicrogyria, Sp... |
OMIM:301006 |
Segawa Syndrome, Autosomal Recessive |
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Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Spinocerebellar Ataxia 47 |
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Short stature, Dysmetria, Chorea, Cerebellar vermis atrophy, Ataxia, Spasticity |
OMIM:617931 |
Septopreoptic Holoprosencephaly |
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Abnormal midbrain morphology, Perisylvian polymicrogyria, Hypoplasia of the pons, Rhombencephalos... |
ORPHA:280195 |
Spinocerebellar Ataxia Type 10 |
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Babinski sign, Cerebellar atrophy, Kinetic tremor, Gait imbalance, Dysmetria, Lower limb spastici... |
ORPHA:98761 |
Leukodystrophy, Hypomyelinating, 20 |
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Dystonia, Babinski sign, Cerebellar atrophy, Torticollis, Spastic tetraplegia, Hypertonia |
OMIM:619071 |
Spinocerebellar Ataxia 21 |
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Postural tremor, Dystonia, Cerebellar atrophy, Abnormality of extrapyramidal motor function, Cogw... |
OMIM:607454 |
Machado-Joseph Disease Type 3 |
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Clumsiness, Dystonia, Babinski sign, Cerebellar atrophy, Peripheral axonal neuropathy, Dilated fo... |
ORPHA:276244 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
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Cerebellar cyst, Gray matter heterotopia, Clonus, Dilated fourth ventricle, Hypoplasia of the pon... |
ORPHA:370959 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
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Attention deficit hyperactivity disorder, Stereotypy |
OMIM:617787 |
Intellectual Developmental Disorder With Autism And Speech Delay |
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Inability to walk, Stereotypy |
OMIM:606053 |
Lissencephaly Type Iii And Bone Dysplasia |
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Hypoplasia of the brainstem, Akinesia, Microlissencephaly, Agenesis of cerebellar vermis |
OMIM:601160 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
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Abnormality of neuronal migration, Intrauterine growth retardation, Short stature, Aplasia/Hypopl... |
ORPHA:2518 |
Macrosomia Adiposa Congenita |
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Obesity, Polyphagia, Large for gestational age |
OMIM:248100 |
Leber Congenital Amaurosis 2 |
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Cerebellar vermis hypoplasia, Eye poking |
OMIM:204100 |
Microphthalmia-Brain Atrophy Syndrome |
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Abnormal pons morphology, Atrophy/Degeneration affecting the brainstem, Tongue thrusting, Cerebel... |
ORPHA:77299 |
Spastic Paraplegia 11, Autosomal Recessive |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Knee clonus, Spastic gait, Lower... |
OMIM:604360 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Gait disturbance, Dystonia, Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
Spinal Muscular Atrophy, Jokela Type |
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Tremor, Distal sensory impairment, Difficulty walking, Fasciculations |
OMIM:615048 |
Spastic Paraplegia 8, Autosomal Dominant |
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Babinski sign, Degeneration of the lateral corticospinal tracts, Upper limb spasticity, Spastic g... |
OMIM:603563 |
Developmental And Epileptic Encephalopathy 93 |
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Spastic tetraparesis, Gait disturbance, Inability to walk, Cerebellar atrophy |
OMIM:618012 |
Jaberi-Elahi Syndrome |
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Dystonia, Cerebellar atrophy, Choreoathetosis, Dysmetria, Tremor, Inability to walk, Spasticity, ... |
OMIM:617988 |
Gerstmann-Straussler Disease |
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Cerebellar atrophy, Rigidity, Myoclonus, Bradykinesia, Tremor, Truncal ataxia, Apraxia, Spasticit... |
OMIM:137440 |
6Q16 Microdeletion Syndrome |
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Obesity, Broad-based gait, Polyphagia, Poor coordination |
ORPHA:171829 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
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Impaired proprioception, Cerebellar hypoplasia, Gait disturbance, Infertility, Hand tremor, Speec... |
ORPHA:412057 |
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type |
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Unsteady gait, Ataxia, Cerebellar atrophy |
OMIM:300861 |
Sub-Cortical Nodular Heterotopia |
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Abnormality of neuronal migration, Spasticity, Polymicrogyria, Subcortical heterotopia |
ORPHA:101029 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
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Gait disturbance, Short stature, Tremor, Aplasia/Hypoplasia of the cerebellum, Hypertonia |
ORPHA:1192 |
Spinocerebellar Ataxia 1 |
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Decreased motor nerve conduction velocity, Impaired proprioception, Paresthesia, Dorsal column de... |
OMIM:164400 |
Coenzyme Q10 Deficiency, Primary, 5 |
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Dystonia, Hypertonia, Cerebellar atrophy, Intrauterine growth retardation |
OMIM:614654 |
Joubert Syndrome 23 |
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Cerebellar dysplasia |
OMIM:616490 |
Glutathionuria |
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Tremor |
OMIM:231950 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
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Periventricular nodular heterotopia, Tetraparesis, Periventricular heterotopia |
OMIM:608097 |
Neuropathy, Ataxia, And Retinitis Pigmentosa |
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Corticospinal tract atrophy, Ataxia |
OMIM:551500 |
Christianson Syndrome |
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Dystonia, Cerebellar atrophy, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Truncal ataxia, G... |
ORPHA:85278 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
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Tremor, Ataxia, Hypertonia, Inability to walk, Cerebellar hypoplasia, Attention deficit hyperacti... |
OMIM:619556 |
Developmental And Epileptic Encephalopathy 97 |
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Tremor, Inability to walk, Stereotypical hand wringing |
OMIM:619561 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Stereotypy, Tremor, Hyperactivity, Spastic tetraparesis, Hydrocephalus, Broad-based gait, Elbow f... |
OMIM:619470 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
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Clumsiness, Postural tremor, Babinski sign, Dystonia, Impaired distal proprioception, Short statu... |
ORPHA:447896 |
Periventricular Nodular Heterotopia 6 |
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Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Autosomal Recessive Ataxia, Beauce Type |
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Clumsiness, Gait disturbance, Arm dystonia, Cerebellar atrophy, Babinski sign, Dysmetria, Atrophy... |
ORPHA:88644 |