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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

GARD:5545

GARD:7878

MESH:C562443

OMIM:277590

UMLS_CUI:C0220765

Synonyms

WEAVER-LIKE SYNDROME [EXACT]

Weaver-Williams syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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