Pontocerebellar Hypoplasia Type 2D
Disease ID: disease_node_16107
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| Dbxref | ICD10CM:Q04.3, MIM:613811, ORDO:2524 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112328 |
| Data Source | DOID |
| Doid Label | pontocerebellar hypoplasia type 2D |
| Doid Description | A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. NT MGI. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16107 |
| Doid Id | DOID_0060270 |
| Label | Pontocerebellar Hypoplasia Type 2D |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)