Metadata | |
---|---|
ID | DOID:0060815 |
Name | Wieacker-Wolff 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 | |
SKOS |
broadMatch MIM:PS314580 |
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] Miles-Carpenter syndrome [EXACT] MRXS4 [EXACT] WRWF [EXACT] X-linked intellectual disability, Miles-Carpenter type [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |