Autosomal Recessive Spinocerebellar Ataxia 29
Disease ID: disease_node_16027
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| Dbxref | MIM:619389 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR29 |
| Doid Label | autosomal recessive spinocerebellar ataxia 29 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. |
| Disease Node Id | disease_node_16027 |
| Doid Id | DOID_0070410 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 29 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)