Pontocerebellar Hypoplasia Type 2F
Disease ID: disease_node_16105
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| Dbxref | MIM:617026 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112328 |
| Data Source | DOID |
| Synonyms | PCH2F |
| Doid Label | pontocerebellar hypoplasia type 2F |
| Doid Description | A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16105 |
| Doid Id | DOID_0112329 |
| Label | Pontocerebellar Hypoplasia Type 2F |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)