| Metadata | |
|---|---|
| ID | DOID:0060278 |
| Name | pontocerebellar hypoplasia type 9 |
| Definition | A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. https://www.omim.org/entry/615809 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |