Pontocerebellar Hypoplasia Type 1A
Disease ID: disease_node_16117
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| Dbxref | MIM:607596, ORDO:2254 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Doid Label | pontocerebellar hypoplasia type 1A |
| Doid Description | A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. NT MGI. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16117 |
| Doid Id | DOID_0060265 |
| Label | Pontocerebellar Hypoplasia Type 1A |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)