| Metadata | |
|---|---|
| ID | DOID:0060815 |
| Name | Miles-Carpenter syndrome |
| Definition | A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. https://www.ncbi.nlm.nih.gov/pubmed/2018061 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
MCS [EXACT] mental retardation, X-linked, syndromic 4 [EXACT] mental retardation, X-linked, with congenital contractures and low fingertip arches [EXACT] MRXS4 [EXACT] X-linked intellectual disability, Miles-Carpenter type [EXACT] |
| Parent Relationships |