| Cerebellar Degeneration-Related Autoantigen 3 |
|
Abnormal cerebellum morphology |
OMIM:602197 |
| Specific Language Impairment 2 |
|
Deficit in phonologic short-term memory |
OMIM:606712 |
| Specific Language Impairment 1 |
|
Deficit in phonologic short-term memory |
OMIM:606711 |
| 7q11.23 duplication syndrome |
|
Short attention span |
DECIPHER:43 |
| Presenile Dementia, Kraepelin Type |
|
Dementia |
OMIM:176600 |
| Monoamine Oxidase A Deficiency |
|
Cognitive impairment |
ORPHA:3057 |
| Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
| Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
| Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
| Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant |
|
Dementia, Cognitive impairment |
OMIM:618564 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect |
OMIM:615041 |
| Spinocerebellar Ataxia Type 31 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Gait ataxia, Tremor |
ORPHA:217012 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Amyotrophic Lateral Sclerosis 3 |
|
Cerebellar atrophy |
OMIM:606640 |
| Spinocerebellar Ataxia Type 41 |
|
Cerebellar vermis atrophy |
ORPHA:458798 |
| Spinocerebellar Ataxia Type 5 |
|
Incoordination, Gait disturbance, Cerebellar atrophy, Slurred speech |
ORPHA:98766 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Broad-based gait, Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy |
OMIM:605388 |
| Spinocerebellar Ataxia 43 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Distal sensory impairment, Rigidity, Tremor,... |
OMIM:617018 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Cerebellar hypoplasia, Tremor, Ataxia |
OMIM:213000 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Cerebellar atrophy, Somatic sensory dysfunction, Tremor |
ORPHA:423296 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Cerebellar atrophy, Tremor, Ataxia |
OMIM:615945 |
| Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Difficulty walking, Impaired vibration sensation in the lower lim... |
ORPHA:171622 |
| Spinocerebellar Ataxia 45 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617769 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Inability to walk, Truncal ataxia, Cerebellar atrophy, Cerebellar ataxia associated with quadrupe... |
OMIM:615268 |
| Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
| Autosomal Spastic Paraplegia Type 30 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Progressive spastic paraplegia, Distal s... |
ORPHA:101010 |
| Spastic Paraplegia 32, Autosomal Recessive |
|
Spastic paraplegia, Cerebellar atrophy, Difficulty walking, Ankle clonus, Babinski sign, Lower li... |
OMIM:611252 |
| Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy |
OMIM:613371 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cerebellar agenesis, Ataxia |
ORPHA:1397 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia, Cerebellar atrophy |
OMIM:617133 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Spasticity, Cerebellar atrophy, Chiari type I malformation, Babinski sign, Impaired distal propri... |
OMIM:619742 |
| Tremor, Hereditary Essential, 6 |
|
Cerebellar atrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Inability to walk, Cerebellar atrophy, Ataxia |
OMIM:619333 |
| Spinocerebellar Ataxia 31 |
|
Gait ataxia, Limb ataxia, Cerebellar atrophy, Ataxia |
OMIM:117210 |
| Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
| Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Spasticity |
OMIM:618185 |
| Chudley-Mccullough Syndrome |
|
Polymicrogyria, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus, Gray matter heterotopia |
OMIM:604213 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Gait ataxia, Intention tremor, Dysmetria, Pontocerebellar atrophy, Tremor, A... |
OMIM:616053 |
| Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:614173 |
| Cerebellar Atrophy, Developmental Delay, And Seizures |
|
Cerebellar atrophy |
OMIM:617643 |
| Optic Atrophy 2 |
|
Babinski sign, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Grid2 Deficiency |
|
Cerebellar vermis atrophy, Difficulty walking, Truncal ataxia, Limb ataxia |
ORPHA:363432 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Nonprogressive cerebellar a... |
ORPHA:94122 |
| Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Craniofacial dystonia, Torticollis, Dystonia, Progressive cerebellar ataxia |
OMIM:611694 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Cerebellar atrophy, Tremor, Ataxia |
OMIM:616187 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Limb ataxia, Gait ataxia, Dysmetr... |
ORPHA:276193 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Dysmetria, Loss o... |
OMIM:613908 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Spasticity, Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, ... |
ORPHA:284332 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab... |
ORPHA:101110 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Ataxia |
OMIM:615957 |
| Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity |
|
Cerebellar atrophy, Polymicrogyria, Hypertonia, Pachygyria, Spastic tetraplegia, Lissencephaly |
OMIM:618730 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Myoclonus, Rigidity, Ataxia, Intention tremor |
OMIM:618876 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:615768 |
| Microlissencephaly |
|
Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Hypertonia, Pachygyria, Subcorti... |
ORPHA:1083 |
| Microcephaly, Seizures, And Developmental Delay |
|
Simplified gyral pattern, Cerebellar atrophy, Ataxia |
OMIM:613402 |
| Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Limb ataxia, Gait ataxia, Dy... |
OMIM:610245 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb dysmetri... |
ORPHA:363710 |
| Sodium-Dependent Multivitamin Transporter Deficiency |
|
Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Cerebral palsy, Polymicrogyria |
OMIM:618973 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Abnormal pyramidal sign, Lower limb spasticity, Ataxia, Truncal at... |
OMIM:616948 |
| Neurodevelopmental Disorder With Motor Regression, Progressive Spastic Paraplegia, And Oromotor Dysfunction |
|
Spasticity, Gait disturbance, Cerebellar atrophy, Spastic tetraparesis |
OMIM:620515 |
| Ceroid Lipofuscinosis, Neuronal, 11 |
|
Cerebellar atrophy, Ataxia |
OMIM:614706 |
| Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive |
|
Cerebellar atrophy |
OMIM:615596 |
| Spinocerebellar Ataxia, Autosomal Recessive 15 |
|
Gait ataxia, Unsteady gait, Cerebellar atrophy, Ataxia |
OMIM:615705 |
| Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Dysmetria, Progressive gait ataxia, Babinski sign, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Cerebellar hypoplasia, Babinski sign, Ataxia, Truncal ataxia |
OMIM:617584 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Myoclonus, Cerebellar atrophy, Loss of ambulation, Ataxia |
OMIM:600143 |
| Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiplegia, Tremor, Hemiparesis, Ataxia |
OMIM:141500 |
| Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria... |
OMIM:616291 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Gait imbalance, Gait ataxia, Limb ataxia, Truncal ataxia, Progressive cerebel... |
OMIM:604432 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Inferior cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Pachygyria, Gait ata... |
OMIM:224050 |
| Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiado... |
OMIM:604326 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Babinski sig... |
OMIM:614322 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Clumsiness, Ataxia, Intention tremor |
OMIM:608029 |
| Dystonia 23 |
|
Cerebellar atrophy, Head tremor, Myoclonus, Limb dystonia, Axial dystonia, Torticollis, Writer's ... |
OMIM:614860 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Difficulty walking, Agenesis of corpus callosum, Babinski sign, L... |
ORPHA:401820 |
| Developmental And Epileptic Encephalopathy 76 |
|
Inability to walk, Lower limb spasticity, Cerebellar atrophy, Upper limb spasticity |
OMIM:618468 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Mental deterioration, Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Cerebellar atrophy |
OMIM:616286 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Action tremor, Cerebellar hypoplasia, Clumsiness, Truncal ataxia, N... |
ORPHA:314978 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Abnormal cerebellum morpholo... |
ORPHA:98762 |
| Megalencephalic Leukoencephalopathy With Subcortical Cysts 2A |
|
Cerebellar atrophy, Lower limb spasticity, Hypertonia, Ataxia, Upper limb spasticity |
OMIM:613925 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Prominent veins on trunk, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosclerosis,... |
ORPHA:79083 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Tremor, Dysmetria, Loss of ambulation, Ataxia, Unsteady gait |
OMIM:617917 |
| Neurodevelopmental Disorder With Epilepsy, Spasticity, And Brain Atrophy |
|
Spastic tetraparesis, Cerebellar atrophy |
OMIM:618741 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Dysmetria, Ankle clonus, Babinski sign, Lower limb spasti... |
OMIM:610357 |
| Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Tongue fasciculations, Spasticity, Cerebellar atrophy, Hypoplasia of the pons, Tetraparesis, Inab... |
OMIM:618276 |
| Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Trem... |
ORPHA:98763 |
| Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions |
|
Truncal ataxia, Cerebellar atrophy |
OMIM:611726 |
| Spinocerebellar Ataxia 14 |
|
Mental deterioration, Memory impairment, Cerebellar atrophy, Gait ataxia, Dysmetria, Attention de... |
OMIM:605361 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Nescav Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Appendicular spasti... |
OMIM:614255 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Bab... |
OMIM:611302 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Action tremor, Abnormality of extrapyramidal motor function, Ataxia, Unsteady... |
OMIM:302500 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Gait ataxia, Myoclonus, Tremor, Babinski sign, Ab... |
OMIM:607317 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebral cortical atrophy, Mental deterioration, Cerebellar atrophy, Confusion, Gait ataxia, Myoc... |
OMIM:615362 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Falls, Cerebellar atrophy, Action myoclonus, Limb ataxia, M... |
OMIM:616230 |
| Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Hemiplegia/hemiparesis, Spastic ataxia, Aplasia/Hypoplasia of the cerebellum, Gait disturbance, A... |
ORPHA:2572 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Babinski sign, Truncal a... |
OMIM:613728 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar vermis hypoplasia, Broad-based gait, Cerebellar atrophy, Limb ataxia, Gait ataxia, Thi... |
OMIM:616127 |
| Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Spasticity, Cerebellar atrophy, Lateral ventricle dilatation, Hand tremor, Babinski sign, Apraxia... |
OMIM:615889 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Pontocerebellar atrophy, ... |
ORPHA:423275 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Abnormality of complement system, Congestive heart failure, Hypertrophic cardiomyopathy, Atherosc... |
ORPHA:2348 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Gait disturbance, Ataxia |
ORPHA:1178 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Clumsiness, Cerebellar atrophy |
OMIM:610003 |
| Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Unsteady gait, Intent... |
OMIM:615386 |
| Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Positive Romberg sign, Dysmetria |
OMIM:617770 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abnormal pyramidal ... |
OMIM:614561 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Abnormal cerebellum morphology, Myoclonus, Abnormality of extrapyramidal motor function, Parkinso... |
OMIM:162350 |
| Niemann-Pick Disease, Type B |
|
Mental deterioration, Sea-blue histiocytosis, Increased LDL cholesterol concentration, Foam cells... |
OMIM:607616 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Cerebellar vermis atrophy, Incoordination, Dilated fourth ventricle, Limb ataxia, Gai... |
OMIM:213200 |
| Morbid Obesity And Spermatogenic Failure |
|
Premature coronary artery atherosclerosis, Congestive heart failure, Decreased HDL cholesterol co... |
OMIM:615703 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Chorea, Myoclonus, Parkinsonism, Atrophy of the dentate nucleus, Ataxia, Dementia, Dystonia, Chor... |
OMIM:125370 |
| Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Difficulty walking, Gait ataxia,... |
ORPHA:512260 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Global brain atrophy, Cerebellar atrophy, Aplasia of the inferior half of the c... |
OMIM:610185 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Inability to walk, Lower limb spasticity, Ataxia |
OMIM:619389 |
| Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Generalized dystonia, Laryngeal dystonia, Intention tremor, Dysmetria, Lower ... |
OMIM:620453 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Cerebellar hypoplasia, Cerebellar vermis hypoplasia, Cerebellar dysplasia, Perisylvian polymicrog... |
OMIM:616531 |
| Huntington Disease |
|
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Bradykinesia |
OMIM:143100 |
| Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Polymicrogyria, Periventricular laminar heterotopia, Ataxia, Pachyg... |
OMIM:611603 |
| Mast Syndrome |
|
Spastic paraplegia, Spastic paraparesis, Cerebellar atrophy, Incoordination, Babinski sign, Aprax... |
OMIM:248900 |
| Dandy-Walker Syndrome |
|
Dilated fourth ventricle, Hydrocephalus, Partial absence of cerebellar vermis, Truncal ataxia, Ag... |
OMIM:220200 |
| Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Limb ataxia, Babinski sign, Progressive gait ataxia, Truncal ataxia, Progress... |
ORPHA:101112 |
| Spastic Paraplegia, Ataxia, And Impaired Intellectual Development |
|
Spastic paraplegia, Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Ankle cl... |
OMIM:607565 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait |
ORPHA:284271 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic ataxia, Progressive spastic paraparesis, Cerebellar atrophy, Spastic tetraparesis |
ORPHA:496756 |
| Huntington Disease-Like 1 |
|
Involuntary movements, Memory impairment, Cerebellar atrophy, Abnormal posturing, Incoordination,... |
ORPHA:157941 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Abnormality of the sense of smell, Hypogonadotropic hy... |
OMIM:146110 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Cerebellar atrophy, Gait ataxia, Cerebellar hypoplasia, Ataxia, Truncal ataxia,... |
OMIM:601238 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar hypoplasia, Myoclonus, Cerebellar atrophy, Hypoplasia of the pons |
OMIM:619303 |
| Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, ... |
OMIM:617225 |
| Intellectual Developmental Disorder, Autosomal Recessive 69 |
|
Cerebellar hypoplasia, Spasticity, Ataxia |
OMIM:618383 |
| Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Dysmetria, Abnormality of extrapyramidal motor function, Loss of ambulation, ... |
OMIM:619806 |
| Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Postural tremor, Myoclonus, Action tremor,... |
OMIM:620158 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, My... |
OMIM:256731 |
| Poretti-Boltshauser Syndrome |
|
Cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Oculomotor apraxia,... |
OMIM:615960 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Dysmetria, Distal sensory impairment, Tremor, Steppage gait, Ataxia |
OMIM:618387 |
| Lead Poisoning |
|
Abnormality of humoral immunity, Imbalanced hemoglobin synthesis, Increased circulating IgE level... |
ORPHA:330015 |
| Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Cerebellar atrophy |
OMIM:618412 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Progressive spastic paraplegia, Hand tremor, Agenesis of corpus callosum, Lower limb spasticity, ... |
ORPHA:401830 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Difficulty walking, Postural ... |
ORPHA:284324 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Incoordination, Gait ataxia, Dysmetria, Babinski s... |
OMIM:616204 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Cerebellar atrophy, Falls, Action tremor, Rigidity, Babinski sign, Parkinsonism, Impa... |
OMIM:300423 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Cerebellar dysplasia |
OMIM:250951 |
| Bilateral Frontoparietal Polymicrogyria |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Cerebellar dysplasia, Abnormal cerebellum m... |
ORPHA:101070 |
| X-Linked Progressive Cerebellar Ataxia |
|
Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Babinski sign, Progressive g... |
ORPHA:1175 |
| Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Appendicular spasticity, Clonus, Spastic t... |
OMIM:613811 |
| Joubert Syndrome 24 |
|
Spasticity, Polymicrogyria, Dysmetria, Cerebellar hypoplasia, Gait disturbance, Ataxia, Pachygyria |
OMIM:616654 |
| Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Rigi... |
OMIM:618090 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Atopic dermatitis,... |
OMIM:618944 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... |
OMIM:617633 |
| Spinocerebellar Ataxia 27B, Late-Onset |
|
Gait ataxia, Postural tremor, Limb ataxia, Cerebellar atrophy |
OMIM:620174 |
| Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... |
OMIM:619802 |
| Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Myoclonus, Gait ataxia, Trun... |
OMIM:607346 |
| Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Limb dysmetria, Distal sensory impairment, Babinski sign, Progressive cerebel... |
OMIM:600223 |
| Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Gait ataxia, Limb dystonia, Parkinsonism, Craniofacial dyston... |
ORPHA:71517 |
| Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Abnormality of humoral immunity, Recurrent upper respiratory tract infections, Inflammatory abnor... |
ORPHA:277 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Gait ataxia, Dysmetria, Agenesis of corpus callosum, Dystonia, Babi... |
ORPHA:453521 |
| Spinocerebellar Ataxia 44 |
|
Spasticity, Cerebellar atrophy, Gait ataxia, Dysmetria, Ataxia, Frequent falls, Dysdiadochokinesis |
OMIM:617691 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Spasticity, Cerebellar atrophy, Spastic tetraplegia, Ataxia |
OMIM:617207 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Inferior cerebellar vermis hypoplasia, Cerebellar atrophy, Inability to walk, Dilated fourth vent... |
OMIM:614831 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Mental deterioration, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal p... |
OMIM:617145 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Confusion, Chorea, Limb ataxia, Positive Romberg sign, Gait... |
OMIM:607136 |
| Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Spasticity, Cerebellar atrophy, Positive Romberg sign, Dysmetria, Loss of ambulation, Babinski si... |
OMIM:618088 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic ataxia, Gait disturbance, Gl... |
OMIM:618369 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Cerebellar atrophy, Tremor, Ankle clonus, Dystonia, Babinski sign, Parkinsonism, Scis... |
ORPHA:521406 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, ... |
OMIM:618093 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Mental deterioration, Spasticity, Involuntary movements, Cerebellar atrophy, Chore... |
ORPHA:98759 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Decr... |
ORPHA:280365 |
| Immunodeficiency 114, Folate-Responsive |
|
Decreased circulating IgG level, Atopic dermatitis, Cerebellar atrophy, Increased circulating fer... |
OMIM:620603 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Cerebellar vermis atrophy, Inability to walk, Chorea, Gait ataxia, Dysmetria, Ataxia |
OMIM:618501 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia |
OMIM:610951 |
| Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Oculom... |
ORPHA:208513 |
| Spastic Paraplegia 85, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Cerebellar atrophy, Impaired temperature sensat... |
OMIM:619686 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Cerebellar vermis hypoplasia, Inability to walk, Periventricular heterotopia, Cerebellar hypoplas... |
OMIM:618273 |
| Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Spasticity, Cerebellar atrophy, Dysdiadochokinesis, Dysmetria, Progressive gait ataxia, Truncal a... |
ORPHA:352403 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Difficulty walking, Cerebellar atrophy, Ataxia |
OMIM:619425 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Impaired tandem gait, Lower limb spasticity, At... |
OMIM:619028 |
| Gordon Holmes Syndrome |
|
Chorea, Cerebellar atrophy, Ataxia |
OMIM:212840 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Gait ataxia, Cogwheel rigidity, Dyst... |
OMIM:128230 |
| Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia |
OMIM:618879 |
| Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait disturbance, Ataxia, Truncal ataxia |
OMIM:614229 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Spinocerebellar Ataxia 29 |
|
Diffuse cerebellar atrophy, Cerebellar vermis hypoplasia, Broad-based gait, Truncal titubation, C... |
OMIM:117360 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Cerebellar atrophy, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Hypoplasia of the pons, Polymicrogyria, Type II lissencephaly, Cerebellar dysplasia, Cerebellar h... |
OMIM:615181 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Mental deterioration, Cerebellar dentate nucleus calcification, Memory impairment, Chorea, Dysmet... |
OMIM:618317 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Cerebellar atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity, Hyperkinetic move... |
OMIM:616981 |
| Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
| Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Broad-based gait, Cerebellar atrophy, Incoordination, Limb ataxia, ... |
OMIM:600224 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Spasticity, Impaired pain sensation, Cerebellar vermis atrophy, Paresthesia, Limb ataxia, Gait at... |
OMIM:616719 |
| Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Fasciculations, Chorea, Postural tremor, Gait ataxia, Parkinsonism, C... |
ORPHA:98756 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Gait imbalance, Myoclonus, Ataxia, Unsteady gait, Frequent falls, Choreoathet... |
OMIM:301020 |
| Boucher-Neuhauser Syndrome |
|
Spasticity, Cerebellar atrophy, Abnormal upper motor neuron morphology, Gait ataxia, Ataxia, Spin... |
OMIM:215470 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Cerebellar dentate nucleus calcification, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Par... |
OMIM:213600 |
| Spinocerebellar Ataxia 7 |
|
Spasticity, Chorea, Dysmetria, Olivopontocerebellar atrophy, Tremor, Babinski sign, Abnormality o... |
OMIM:164500 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Cerebellar vermis atrophy, Dilated fourth ventricle, Babinski sign, Torticollis, Ataxia, Frequent... |
OMIM:619054 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Pain insensitivity, Cerebellar vermis atrophy, Impaired vibration sensation in the lower limbs, S... |
ORPHA:94124 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Dysmetria, Tremor, Loss of ambulation, Lower limb spasticity, Ataxia |
OMIM:617916 |
| Spinocerebellar Ataxia 28 |
|
Spasticity, Cerebellar atrophy, Somatic sensory dysfunction, Limb ataxia, Gait ataxia, Babinski s... |
OMIM:610246 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Herpes simplex encephalitis, Increased circulating IgE level, Recurrent otitis media, Hepatosplen... |
OMIM:618982 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Spasticity, Cerebellar vermis atrophy, Inability to walk, Dysmetria, Hirsutism, Cerebellar hypopl... |
OMIM:618087 |
| Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar vermis hypoplasia, Spasticity, Impaired vibratory sensation, Cerebellar atrophy, Diffi... |
ORPHA:98 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Lissencephaly, Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cy... |
OMIM:613153 |
| Spinocerebellar Ataxia 42 |
|
Loss of Purkinje cells in the cerebellar vermis, Cerebellar atrophy, Tremor, Babinski sign, Spast... |
OMIM:616795 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk... |
ORPHA:251282 |
| Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Inferior cerebellar vermis hypoplasia, Cerebellar dysplasia, Dilated fourth ventricle, Elongated ... |
ORPHA:370022 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Increased neuronal a... |
ORPHA:79263 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Hand ... |
OMIM:614409 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... |
ORPHA:2722 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Limb myoclonus, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Ga... |
OMIM:619862 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Impaired vibratory sensation, Cerebellar atrophy, Distal sensory impairment, Steppage gait, Ataxi... |
OMIM:607250 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Cerebellar hypoplasia, Limb dystonia, Tremor, Ataxia |
OMIM:620270 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait ataxia, ... |
ORPHA:248111 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Tremor, Rigidity, Chiari type I malformation, Dystonia, Ataxia, Bradykinesia |
OMIM:617836 |
| Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Hand tremor, Difficulty walking, Akinesia, Limb ataxia, Gait ataxia, Tremor, ... |
ORPHA:98764 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dilated fourth ventricle, Ataxia, Subcortical... |
OMIM:615771 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 14A (Bilateral Frontoparietal) |
|
Broad-based gait, Hypoplasia of the pons, Dysmetria, Ankle clonus, Cerebellar hypoplasia, Babinsk... |
OMIM:606854 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Cerebellar atrophy, Progressive psychomotor deterioration, C... |
ORPHA:1170 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Recurrent pneumonia, Increased circulating IgE level, Recurrent bronchiolitis, Pustule, Coarctati... |
OMIM:616069 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Cerebellar atrophy, Inability to walk, Gait ataxia, Dysmetria, Tremor, Cerebellar hyp... |
OMIM:617810 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Abnormal posturing, Generalized dystonia, Inability to walk, T... |
OMIM:128100 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Depressed nasal bridge, Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed h... |
OMIM:617241 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Hypotriglyceridemia, Premature coronary artery atherosclerosis, Hypocholesterolemia, Decreased ci... |
OMIM:620058 |
| Pontocerebellar Hypoplasia, Type 1A |
|
Tongue fasciculations, Hypoplasia of the pons, Hand tremor, Fasciculations, Lateral ventricle dil... |
OMIM:607596 |
| Crome Syndrome |
|
Cerebellar dysplasia |
OMIM:218900 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hyperton... |
OMIM:619738 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Long eyelashes, Thick eyebrow, Low anterior hairline, Cerebellar hy... |
OMIM:616819 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Cerebellar vermis hypoplasia, Inability to walk, Cerebellar dysplasia, Cerebellar hypoplasia, Hyd... |
OMIM:613155 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ataxia,... |
ORPHA:98772 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Mental deterioration, Cerebellar atrophy, Cerebral atrophy... |
OMIM:617672 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Joubert Syndrome 23 |
|
Cerebellar dysplasia |
OMIM:616490 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Decreased circulating IgG level, Inflammation of the large intestine, Eczematoid dermatitis, Chro... |
ORPHA:98813 |
| Episodic Ataxia Type 6 |
|
Hemiplegia, Cerebellar atrophy, Slurred speech, Ataxia |
ORPHA:209967 |
| Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Inability to walk, Gait ataxia, Cerebellar atrophy, Ataxia |
OMIM:617915 |
| Immunodeficiency 89 And Autoimmunity |
|
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... |
OMIM:619632 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive cerebellar ... |
ORPHA:139485 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive... |
ORPHA:3261 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Spastic paraplegia, Mental deterioration, Cerebellar atrophy, Difficulty walking, Neurodegenerati... |
OMIM:612319 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Dysmetria, Loss of ambulation, Babinski sign... |
OMIM:616680 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Hypertrichosis, Gait disturbance, Ataxia, Progressive neurologic deterioratio... |
ORPHA:85317 |
| Werner Syndrome |
|
Secondary amenorrhea, Abnormal cerebral vascular morphology, Congestive heart failure, Hypogonadi... |
ORPHA:902 |
| Tangier Disease |
|
Atherosclerosis, Hypertriglyceridemia, Splenomegaly, Coronary artery atherosclerosis, Elevated ci... |
OMIM:205400 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dystonia, Abnormal pyramidal sign, Head titubat... |
OMIM:617560 |
| Behr Syndrome |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Dysmetria, Tremor, Babinski sign, Gait disturbance... |
OMIM:210000 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Inability to walk, Tremor, Dysplastic corpus callosum, Ataxia, Dystonia, Spastic tetr... |
ORPHA:599373 |
| Joubert Syndrome 25 |
|
Cerebellar hypoplasia, Molar tooth sign on MRI |
OMIM:616781 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Diffuse cerebellar atrophy, Broad-based gait, Difficulty walking, Progressive truncal ataxia, Dys... |
ORPHA:363429 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Progressive spastic paraplegia, Babinski sign, Gait disturbance, Ataxia |
OMIM:612020 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Impaired vibration sensation in the lower limbs, Distal sensory impairment, D... |
OMIM:159550 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebellar hemisphere hypoplasia, Gliosis, Hypertonia, Simplified... |
OMIM:615095 |
| Spinocerebellar Ataxia 13 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Limb dysmetria, Myoclonus, Gait ataxia, Abnormal pyr... |
OMIM:605259 |
| Schimke Immuno-Osseous Dysplasia |
|
Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Neutropenia, Broa... |
ORPHA:1830 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Mental deterioration, Optic atrophy, Cerebellar atrophy, Difficulty walking, Impaired vibration s... |
ORPHA:137898 |
| Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Spasticity, Tremor, Rigidity, Cerebellar hypoplasia, Hypertonia, Ataxia, Abnormal ... |
ORPHA:33445 |
| Hypogonadotropic Hypogonadism 17 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Hyposmia |
OMIM:615266 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Hyposmia, Elevated circulating pristanic acid concentration, Hypergonadotropic hypog... |
OMIM:613724 |
| Episodic Ataxia, Type 6 |
|
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Hemiparesis, Cerebellar hypoplasia, Truncal atax... |
OMIM:612656 |
| Spastic Ataxia 3, Autosomal Recessive |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia... |
OMIM:611390 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramida... |
OMIM:610743 |
| Shukla-Vernon Syndrome |
|
Attention deficit hyperactivity disorder, Broad-based gait, Sparse hair, Cerebellar atrophy |
OMIM:301029 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... |
OMIM:243700 |
| Mucolipidosis Iv |
|
Optic atrophy, Cerebellar atrophy, Dysplastic corpus callosum, Babinski sign, Hypergastrinemia, P... |
OMIM:252650 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Tremor, Rigidity, Dystonia, Parkinsonism,... |
ORPHA:329284 |
| Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Atherosclerosis, Hypertriglyceridemia |
OMIM:603813 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Inability to walk, Extrapyramidal muscular rigidity, Action tremor, Dysmetria... |
ORPHA:93952 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Hypercholesterolemia, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Oculogyric crisis, Cerebellar atrophy, Difficulty walking, Inability to walk, Trem... |
ORPHA:330050 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration, Increased circulating IgE level, Hypereosinophilia, Abn... |
OMIM:212050 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Fasciculations |
OMIM:615048 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Cerebral atrophy, Difficulty walking, Hirsutism, Abnormal pyramidal sign, Hea... |
ORPHA:527497 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Tip-toe gait, Cerebellar vermis atrophy, Gai... |
OMIM:614877 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Cerebellar atrophy, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, T... |
ORPHA:397946 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Truncal titubation, Impaired vibratory sensation, Cerebellar atrophy, Postural tremor, Limb ataxi... |
OMIM:609270 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic paraplegia, Cerebral cortical atrophy, Memory impairment, Cerebellar atrophy, Upper limb ... |
OMIM:607259 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Memory impairment, Sparse body hair, Abnormal eyelash morphology, Sparse sc... |
ORPHA:1008 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair |
OMIM:601553 |
| Autosomal Recessive Spastic Paraplegia Type 39 |
|
Spastic paraplegia, Cerebellar atrophy, Gait ataxia, Babinski sign, Lower limb spasticity |
ORPHA:139480 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Spinocerebellar Ataxia 34 |
|
Spasticity, Cerebellar atrophy, Fasciculations, Limb ataxia, Gait ataxia, Intention tremor, Abnor... |
OMIM:133190 |
| Spinocerebellar Ataxia Type 21 |
|
Cerebellar vermis atrophy, Gait ataxia, Tremor, Rigidity, Abnormality of extrapyramidal motor fun... |
ORPHA:98773 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Mental deterioration, Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Distal sensory impair... |
OMIM:208920 |
| Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar vermis hypoplasia, Cerebellar atrophy, Dilated fourth ventricle, Chorea, Myoclonus, Ga... |
ORPHA:251347 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Cerebellar atrophy, Elevated urine N-acetylaspartic acid level |
OMIM:618384 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper... |
OMIM:229070 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Cutaneous absc... |
OMIM:613953 |
| Severe Combined Immunodeficiency, X-Linked |
|
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Reduced natural killer cell acti... |
OMIM:300400 |
| Aspergillosis |
|
Pneumonia, Keratitis, Hepatitis, Nasal congestion, Increased circulating IgE level, Osteomyelitis... |
ORPHA:1163 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Premature coronary artery atherosclerosis, Increased LDL cholesterol concentration, Gout, Hyperte... |
OMIM:610947 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, External genital hypoplasia, Hepatic steatosis, Patent ductus arteriosus, Hyposmia |
OMIM:615996 |
| Hypogonadotropic Hypogonadism 6 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea... |
OMIM:612702 |
| Immunodeficiency 11B With Atopic Dermatitis |
|
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... |
OMIM:617638 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cere... |
OMIM:608768 |
| Igg4-Related Aortitis |
|
Abnormal aortic arch morphology, Aortic dissection, Increased circulating IgE level, Reduced circ... |
ORPHA:449400 |
| Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Head tremor, Gait ataxia, Dysmetria, Titubation |
ORPHA:98771 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Spastic ataxia, Oculom... |
OMIM:614487 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Type IV atherosclerotic lesion, Hy... |
OMIM:144300 |
| Cholesteryl Ester Storage Disease |
|
Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Jaundice, Arte... |
ORPHA:75234 |
| Hypoalphalipoproteinemia, Primary, 1 |
|
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Myocardial in... |
OMIM:604091 |
| Spinocerebellar Ataxia Type 1 |
|
Cognitive impairment, Bradykinesia, Progressive cerebellar ataxia, Slurred speech, Memory impairm... |
ORPHA:98755 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia |
OMIM:613909 |
| Huntington Disease |
|
Mental deterioration, Memory impairment, Abnormal circulating cholesterol concentration, Abnormal... |
ORPHA:399 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Cryptorchidism, Coronary artery atheroscleros... |
ORPHA:1192 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... |
OMIM:610628 |
| Dystonia 31 |
|
Arm dystonia, Abnormal posturing, Generalized dystonia, Difficulty walking, Leg dystonia, Parkins... |
OMIM:619565 |
| Immunodeficiency, Common Variable, 11 |
|
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Incr... |
OMIM:615767 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Broad-based gait, Spasticity, Lateral ventricle dilatation, Inability to walk, Myoclonus, Short a... |
OMIM:617854 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Limb ataxia, Dysmetria, Ankle ... |
ORPHA:284289 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ... |
ORPHA:189 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Cerebellar atrophy, Resting tremor, Incoordination, Limb ataxia, Gait ataxia... |
OMIM:615157 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Decreased circulating IgG level, Cerebellar vermis hypoplasia, Depressed nasal b... |
OMIM:212065 |
| Autosomal Recessive Spastic Paraplegia Type 78 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Progressive spastic paraplegia, Difficulty walking... |
ORPHA:513436 |
| Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
| Hypertriglyceridemia 1 |
|
Hypopituitarism, Increased VLDL cholesterol concentration, Precocious atherosclerosis, Hypertrigl... |
OMIM:145750 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun... |
ORPHA:276244 |
| Familial Cerebral Saccular Aneurysm |
|
Abnormal circle of Willis morphology, Aortic root aneurysm, Aortic dissection, Atherosclerosis, A... |
ORPHA:231160 |
| Joubert Syndrome 30 |
|
Cerebellar atrophy, Polymicrogyria, Gray matter heterotopia, Superior cerebellar dysplasia, Dandy... |
OMIM:617622 |
| Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Dysdiadochokinesis, Chorea, Gait ataxia, Dysmetria, Lower limb spasticity, Oc... |
OMIM:604391 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Fasciculations, Ankle clonus, Babinski sign, Abnormal pyramidal sign, Lower l... |
OMIM:618598 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Cerebellar atrophy, Dilated fourth ventricle, Abnormality of extrapyramidal motor fun... |
ORPHA:276241 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Tremor, Dysmetria, Ataxia, Unsteady gait, Titubation |
OMIM:619405 |
| Null Syndrome |
|
Progressive spastic paraplegia, Difficulty walking, Inability to walk, Abnormal cerebellum morpho... |
ORPHA:280234 |
| Jaberi-Elahi Syndrome |
|
Broad-based gait, Sparse eyebrow, Fine hair, Cerebellar vermis atrophy, Inability to walk, Gait a... |
OMIM:617988 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Anosmia, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenor... |
OMIM:614858 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Sparse eyebrow, Global brain atrophy, Reduced hair sulfur content, Tiger tail b... |
OMIM:300953 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Decreased motor nerve conduction velocity, Difficu... |
OMIM:302800 |
| Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Abnormality of the sense of smel... |
OMIM:228300 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Foam cells, Decreased HDL cholesterol concentration, Hemolytic anemia, Norm... |
OMIM:245900 |
| Cognitive Impairment With Or Without Cerebellar Ataxia |
|
Gait ataxia, Cerebellar atrophy, Dysmetria, Ataxia |
OMIM:614306 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Recurrent upper respiratory tract infe... |
ORPHA:169154 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia |
OMIM:612016 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Reduced natural ki... |
OMIM:619752 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Abnormal pyramidal sign, Hydrocephalus, Ataxia, Palatal tremor |
ORPHA:363717 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Abnormal cerebellum morphology, Tremor |
OMIM:190310 |
| Asherman Syndrome |
|
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... |
ORPHA:137686 |
| Lissencephaly 6 With Microcephaly |
|
Spasticity, Cerebellar atrophy, Polymicrogyria, Periventricular heterotopia, Microlissencephaly, ... |
OMIM:616212 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| 4H Leukodystrophy |
|
Mental deterioration, Optic atrophy, Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrap... |
ORPHA:289494 |
| Alstrom Syndrome |
|
Irregular menstruation, Nephritis, Recurrent pneumonia, Dilated cardiomyopathy, Congestive heart ... |
OMIM:203800 |
| Perrault Syndrome 1 |
|
Cerebellar atrophy, Gait ataxia, Ataxia, Intention tremor, Spastic diplegia |
OMIM:233400 |
| Filippi Syndrome |
|
Cerebellar atrophy, Hypertrichosis, Frontal hirsutism, Dystonia, Sparse hair |
OMIM:272440 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis |
OMIM:105500 |
| Fish-Eye Disease |
|
Atherosclerosis, Splenomegaly, Angina pectoris, Lymphadenopathy, Decreased HDL cholesterol concen... |
ORPHA:79292 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Impaired vibration sensation in the lower limbs, Tremor, Babinski sign, Lower... |
OMIM:600363 |
| Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:454887 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Myoclonus, Dysmetria, Cerebellar hypoplasia,... |
ORPHA:313772 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Cerebellar atrophy, Tremor, Rigidity, Oculomotor apraxia, Ataxia, Dystonia, Choreoath... |
OMIM:612438 |
| Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Foam cells, Cirrhosis, Thrombocytopenia |
OMIM:269600 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Flared nostrils, Dilated cardiomyopathy, Moyamoya phenomenon, Decreased testicular size, Azoosper... |
ORPHA:280679 |
| Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Distal sensory... |
OMIM:603516 |
| Familial Paroxysmal Ataxia |
|
Cerebellar vermis atrophy, Hemiplegia, Torticollis, Ataxia |
ORPHA:97 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:610539 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidity, Clumsiness, ... |
ORPHA:216873 |
| Congenital Disorder Of Glycosylation, Type Iibb |
|
Cerebellar vermis hypoplasia, Spasticity, Cerebellar atrophy, Tetraparesis, Antalgic gait, Tremor |
OMIM:620546 |
| Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Frequent falls, Incoordination, Dysmetria, Loss of ambulation, Ataxia, Trunca... |
OMIM:183086 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Pgm3-Cdg |
|
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... |
ORPHA:443811 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Spasticity, Cerebellar atrophy, Fasciculations, Dilated fourth vent... |
OMIM:183090 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Oculomotor apraxia, Ataxia, Frequent falls |
OMIM:615217 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Ataxia-Pancytopenia Syndrome |
|
Cerebellar atrophy, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Ataxia, Unsteady gait |
ORPHA:2585 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Broad-based gait, Cerebellar atrophy, Dysmetria, Ataxia |
OMIM:618098 |
| Spinocerebellar Ataxia 36 |
|
Tongue fasciculations, Cerebellar atrophy, Fasciculations, Incoordination, Limb ataxia, Gait atax... |
OMIM:614153 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Gait disturbance, Fine hair, Ataxia |
ORPHA:1174 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Mental deterioration, Spasticity, Cerebellar dentate nucleus calcification, Tremor, Abnormal pyra... |
ORPHA:542310 |
| Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Tremor, Ankle clonus, Dystonia, Abnorm... |
OMIM:617435 |
| Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Keratitis, Eczematoid dermatitis, Increased circulating IgE level, Recurrent otitis media, Eosino... |
OMIM:618523 |
| Hypogonadotropic Hypogonadism 3 With Or Without Anosmia |
|
Anosmia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis, Hyposmia |
OMIM:244200 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Hirsutism, Ataxia, Unsteady gait, Synophrys |
OMIM:300861 |
| Spinocerebellar Ataxia 21 |
|
Mental deterioration, Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rig... |
OMIM:607454 |
| Meckel Syndrome 13 |
|
Cerebellar hypoplasia, Oculomotor apraxia, Occipital encephalocele, Ataxia |
OMIM:617562 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Hypogonadotropic hypogonadism, Choanal atresia, Aplasia/Hypoplasia involving the nose, Abnormalit... |
ORPHA:1135 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Anosmia, Nasal polyposis, Bronchiectasis, Atelectasis, Absent outer dynein arms, Recur... |
OMIM:244400 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Pneumonia, Atopic dermatitis, Chronic otitis media, Increased circulating IgE level, Recurrent si... |
ORPHA:217390 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... |
OMIM:602450 |
| Fragile X Tremor/Ataxia Syndrome |
|
Mental deterioration, Poor fine motor coordination, Cerebellar atrophy, Resting tremor, Memory im... |
OMIM:300623 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Urban-Rogers-Meyer Syndrome |
|
Increased circulating IgE level, Hypogonadism, Prominent nasal bridge, Cryptorchidism, Hypoplasia... |
ORPHA:3409 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Anosmia, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Mi... |
OMIM:614880 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Shuffling gait, Cerebellar atrophy, Paresthesia, Cogwheel rigidity, Action tremor,... |
ORPHA:254886 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Diffuse cerebellar atrophy, Limb ataxia, Progressive gait ataxia, Abnormal pyramidal sign, Trunca... |
ORPHA:247815 |
| L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gliosi... |
OMIM:236792 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Spasticity, Cerebellar atrophy, Difficulty walking, Gait ataxia, Dysmetria, Tremor, Cerebellar hy... |
ORPHA:529665 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Somatic sensory dysfunction, Limb myoclonus, Progressive extrapyramidal mu... |
ORPHA:240103 |
| Gapo Syndrome |
|
Choanal atresia, Depressed nasal bridge, Abnormal cerebral vascular morphology, Atherosclerosis, ... |
ORPHA:2067 |
| Immunodeficiency 25 |
|
Recurrent pneumonia, Increased circulating IgE level, Complete or near-complete absence of specif... |
OMIM:610163 |
