Pontocerebellar Hypoplasia Type 1C
Disease ID: disease_node_16112
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| Dbxref | MIM:616081 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH1C |
| Doid Label | pontocerebellar hypoplasia type 1C |
| Doid Description | A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16112 |
| Doid Id | DOID_0112334 |
| Label | Pontocerebellar Hypoplasia Type 1C |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)