Pontocerebellar Hypoplasia Type 1E
Disease ID: disease_node_16114
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| Dbxref | MIM:619303 |
|---|---|
| Subclassof | DOID_0112322, DOID_0050737 |
| Data Source | DOID |
| Synonyms | PCH1E |
| Doid Label | pontocerebellar hypoplasia type 1E |
| Doid Description | A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16114 |
| Doid Id | DOID_0112330 |
| Label | Pontocerebellar Hypoplasia Type 1E |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)