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Summary Literature (0)
DOID:3783 - Coffin-Lowry syndrome


Disease Ontology 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.

Synonyms: Coffin-Lowry syndrome (disorder)

In OMIM:
OMIM:303600 - COFFIN-LOWRY SYNDROME; CLS

In Mondo Disease Ontology:
MONDO:0010561 - Coffin-Lowry syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : rps6ka3

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): X-linked disease (is_a), syndrome (is_a)