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 | |
Subsets |
DO_rare_slim |
Synonyms |
mental retardation, X-linked, syndromic 32 [EXACT] MRXS32 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has symptom some heart failure |