1 Child Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0112060 | Raynaud-Claes syndrome | A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. |
1 Parent Term
| Identifier | Name | Description |
|---|---|---|
| DOID:0050888 | syndromic intellectual disability | An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. |
