Term Name:	Coffin-Lowry syndrome
Synonyms:
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.
Ontology:	Human Disease [DOID:3783]   ( DOID:3783 )