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Coffin-Lowry syndrome

Disease Summary
Associated Targets (1)
Tchem

1


Explore Associated Targets
Mondo Description Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.
Uniprot Description A X-linked mental retardation associated with facial and digital dysmorphisms, progressive skeletal malformations, growth retardation, hearing deficit and paroxysmal movement disorders.
Disease Ontology Description An X-linked dominant disease 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.
Mondo Term and Equivalent IDs
MONDO:0010561:  Coffin-Lowry syndrome
GARD:0006123: 
GARD:0008589: 
MESH:C536435: 
MESH:D038921: 
NCIT:C84643: 
Orphanet:192: 
SCTID:15182000: 
UMLS:C0265252: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)