| Metadata | |
|---|---|
| ID | DOID:0060276 |
| Name | pontocerebellar hypoplasia type 7 |
| Definition | A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. https://www.omim.org/entry/614969 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |