Pontocerebellar Hypoplasia Type 11
Disease ID: disease_node_16111
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| Dbxref | MIM:617695, ORDO:611247 |
|---|---|
| Subclassof | DOID_0060264, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH11 |
| Doid Label | pontocerebellar hypoplasia type 11 |
| Doid Description | A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16111 |
| Doid Id | DOID_0112324 |
| Label | Pontocerebellar Hypoplasia Type 11 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)