Metadata | |
---|---|
ID | DOID:0112050 |
Name | non-syndromic X-linked intellectual disability 63 |
Definition | A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. https://pubmed.ncbi.nlm.nih.gov/10854107/, https://pubmed.ncbi.nlm.nih.gov/11889465/ |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ACSL4-related intellectual disability [EXACT] MRX63 [EXACT] MRX68 [EXACT] X-linked mental retardation 63 [EXACT] X-linked mental retardation 68 [EXACT] |
Parent Relationships |