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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)

Xenbase Genes : rps6ka3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010561 - pedal digit 5 metatarsal cartilage element

MIM:
MIM:303600 - COFFIN-LOWRY SYNDROME; CLS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndrome (is_a), X-linked dominant disease (is_a), X-linked monogenic disease (is_a)