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An overgrowth syndrome caused by a heterozygous mutation(s) in the EZH2 gene, encoding histone-lysine N-methyltransferase EZH2. This condition is characterized by rapid prenatal and early childhood growth, advanced bone maturation and carpal bone development, craniofacial and skeletal abnormalities, and developmental delay. The distinctive physical and craniofacial characteristics may include macrocephaly, flattened occiput, long philtrum, strabismus, hypertelorism, epicanthal folds, and camptodactyly.
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