OBO ID: DOID:0060828
Term Name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Search Ontology:
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
is a type of:
OTHER X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CLIC2 ?Intellectual developmental disorder, X-linked syndromic 32 300886
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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