Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:3783 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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