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Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome

Disease definition

A syndrome that is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic.

ORPHA:83473

Classification level: Disorder
  • Synonym(s):
    • MPPH syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Not applicable 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q04.8
  • OMIM: 603387  615937  615938
  • UMLS: C1863924
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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