| Metadata | |
|---|---|
| ID | DOID:0060813 |
| Name | syndromic X-linked intellectual disability Shrimpton type |
| Definition | A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. https://www.ncbi.nlm.nih.gov/pubmed/10331611, https://www.ncbi.nlm.nih.gov/pubmed/10797443 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
mental retardation, X-linked, syndromic 9 [EXACT] MRXS9 [EXACT] |
| Parent Relationships |