Metadata | |
---|---|
ID | DOID:0060272 |
Name | pontocerebellar hypoplasia type 3 |
Definition | A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. https://www.omim.org/entry/608027 |
Xrefs |
SNOMEDCT_US_2023_03_01:718609003 |
Subsets |
DO_rare_slim |
Parent Relationships |