| Metadata | |
|---|---|
| ID | DOID:0060826 |
| Name | syndromic X-linked intellectual disability Shashi type |
| Definition | A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. https://www.ncbi.nlm.nih.gov/pubmed/10677307, https://www.ncbi.nlm.nih.gov/pubmed/25256757 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic 11, Shashi type [EXACT] MRXS11 [EXACT] Shashi X-linked mental retardation syndrome [EXACT] SMRXS [EXACT] syndromic X-linked intellectual disability type 11 [EXACT] X-linked mental retardation Shashi type [EXACT] |
| Parent Relationships |