| Metadata | |
|---|---|
| ID | DOID:0112038 |
| Name | non-syndromic X-linked intellectual disability 1 |
| Definition | A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. https://pubmed.ncbi.nlm.nih.gov/20473311/, https://pubmed.ncbi.nlm.nih.gov/3177466/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MRX1 [EXACT] MRX18 [EXACT] MRX78 [EXACT] X-linked mental retardation 1 [EXACT] X-linked mental retardation 1/78 [EXACT] X-linked mental retardation 18 [EXACT] X-linked mental retardation 78 [EXACT] |
| Parent Relationships |