OBO ID: DOID:3783
Term Name: Coffin-Lowry syndrome Search Ontology:
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 Coffin-Lowry syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RPS6KA3 Coffin-Lowry syndrome 303600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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