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Human Disease

X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome

Term ID
DOID:0060828
Synonyms
  • mental retardation, X-linked, syndromic 32
  • MRXS32
Definition
A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/22814392
References
Ontology
Human Disease   ( DOID:0060828 )
Relationships
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Genes Involved
Zebrafish Models