Pontocerebellar Hypoplasia Type 14
Disease ID: disease_node_16110
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| Dbxref | MIM:619301 |
|---|---|
| Subclassof | DOID_0060264, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH14 |
| Doid Label | pontocerebellar hypoplasia type 14 |
| Doid Description | A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16110 |
| Doid Id | DOID_0112325 |
| Label | Pontocerebellar Hypoplasia Type 14 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)