Metadata | |
---|---|
ID | DOID:0060275 |
Name | pontocerebellar hypoplasia type 6 |
Definition | A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. https://www.omim.org/entry/611523 |
Xrefs |
SNOMEDCT_US_2023_03_01:718606005 |
Subsets |
DO_rare_slim |
Parent Relationships |