| 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://www.ncbi.nlm.nih.gov/pubmed/30793471, https://ghr.nlm.nih.gov/condition/weaver-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
WEAVER-LIKE SYNDROME [EXACT] Weaver-Williams syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |