| Metadata | |
|---|---|
| ID | DOID:3783 |
| Name | Coffin-Lowry syndrome |
| Definition | A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance |
| Xrefs |
SNOMEDCT_US_2023_03_01:15182000 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a syndrome |