Human genes for Coffin-Lowry syndrome
Coffin-Lowry syndrome [DOID:3783]
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.
Synonyms: Coffin-Lowry syndrome, CoffinLowry syndrome, Coffin-Lowry disease, Coffin-Lowry disorder, Coffin-Lowry syndromes ...
Linkouts: OMIM