1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0080585 | Van Maldergem syndrome 1 | A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060238 | Van Maldergem syndrome | A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. |
