| Metadata | |
|---|---|
| ID | DOID:0060273 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060273 Copy |
| Name | pontocerebellar hypoplasia type 4 |
| Definition | A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://pubmed.ncbi.nlm.nih.gov/18711368/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:718608006 |
| Subsets |
DO_rare_slim |
| Parent Relationships |