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weaver syndrome

Medical Definition

A rare syndrome caused by mutations in the ezh2 gene, and rarely mutations in the nsd1 gene. it is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.
Related Codes (1)
Code
Description
Billable
Details
Q87.3Congenital malformation syndromes involving early overgrowth

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