1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080806 | cranioectodermal dysplasia 4 | A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050737 | autosomal recessive disease | An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. |
