Pontocerebellar Hypoplasia Type 13
Disease ID: disease_node_16104
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| Dbxref | MIM:618606 |
|---|---|
| Subclassof | DOID_0060264, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH13 |
| Doid Label | pontocerebellar hypoplasia type 13 |
| Doid Description | A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16104 |
| Doid Id | DOID_0112332 |
| Label | Pontocerebellar Hypoplasia Type 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)