1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0112367 | Coffin-Siris syndrome 8 | A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:150 | disease of mental health | A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. |