1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112368 | Coffin-Siris syndrome 5 | A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0060037 | developmental disorder of mental health | A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. |
