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Megalencephaly-polydactyly syndrome(MPAPA)

MedGen UID:
1054615
•Concept ID:
CN377205
•
Disease or Syndrome
Synonym: MPAPA
 
Gene (location): MYCN (2p24.3)
 
Monarch Initiative: MONDO:0958279
OMIM®: 620748

Definition

Megalencephaly-polydactyly syndrome (MPAPA) is an autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy (summary by Nishio et al., 2023). [from OMIM]

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    • ClinVar
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    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
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