Macrocephaly macrosomia facial dysmorphism syndrome

Definition:

Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome.

References:

[1]. Jenny Douglas, et al. Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth. Nat Genet. 2007 Aug;39(8):963-5. [Content Brief]

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