| Metadata | |
|---|---|
| ID | DOID:0060277 |
| Name | pontocerebellar hypoplasia type 8 |
| Definition | A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. https://www.omim.org/entry/614961 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |