Autosomal Recessive Spinocerebellar Ataxia 14
Disease ID: disease_node_16037
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| Dbxref | MIM:615386 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR14 |
| Doid Label | autosomal recessive spinocerebellar ataxia 14 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. |
| Disease Node Id | disease_node_16037 |
| Doid Id | DOID_0080058 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)