1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0070407 | hypomyelinating leukodystrophy 21 | A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:630 | genetic disease | A disease that has_material_basis_in genetic variations in the human genome. |
