Metadata | |
---|---|
ID | DOID:14731 |
Name | Weaver syndrome |
Definition | A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. https://ghr.nlm.nih.gov/condition/weaver-syndrome, https://www.ncbi.nlm.nih.gov/pubmed/30793471 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
WEAVER-LIKE SYNDROME [EXACT] Weaver-Williams syndrome [EXACT] |
Parent Relationships |
is_a syndrome |