CCND2

Professionals

The megalencephaly-polymicrogyria-polydactyly-hydrocephalus (MPPH) syndrome characterized by:

  • Megalencephaly (MEG) – often congenital
  • Polymicrogyria
  • Hydrocephalus – may require neurosurgical intervention
  • Polydactyly – typically postaxial polydactyly

Mutations are most often heterozygous de novo.