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Weaver syndrome
Summary
- Synonym
-
- WEAVER-LIKE SYNDROME
- Weaver-Williams 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:14731
- Mondo Disease Ontology
- MeSH
- UMLS
- OMIM
- GARD
- MGI genotype (from TogoID)
