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.
Comment:
OMIM mapping confirmed by DO. [SN].
class Information
has_obo_namespace
disease_ontology