Autosomal Recessive Spinocerebellar Ataxia 20
Disease ID: disease_node_16029
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| Dbxref | MIM:616354 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR20 |
| Doid Label | autosomal recessive spinocerebellar ataxia 20 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. |
| Disease Node Id | disease_node_16029 |
| Doid Id | DOID_0080066 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 20 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)