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Metadata
ID DOID:0060828
Name X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
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
Xrefs

OMIM:300886

ORDO:324410

Synonyms

mental retardation, X-linked, syndromic 32 [EXACT]

MRXS32 [EXACT]

Parent Relationships

is_a syndromic X-linked intellectual disability

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