Coffin-Lowry syndrome

Term ID

DOID:3783

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. https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance

References

• GARD:6123
• MESH:D038921
• NCI:C84643
• OMIM:303600
• SNOMEDCT_US_2023_03_01:15182000
• UMLS_CUI:C0265252

Ontology

Human Disease   ( DOID:3783 )