Metadata | |
---|---|
ID | DOID:0060274 |
Name | pontocerebellar hypoplasia type 5 |
Definition | A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. https://www.omim.org/entry/610204 |
Xrefs |
SNOMEDCT_US_2023_03_01:718607001 |
Subsets |
DO_rare_slim |
Parent Relationships |