1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112331 | pontocerebellar hypoplasia type 1F | A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
