Term Name: | Weaver syndrome |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:14731] ( DOID:14731 ) |