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GTR Home > Conditions/Phenotypes > Megalencephaly-polydactyly syndrome

Megalencephaly-polydactyly syndrome

Summary

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]

Genes See tests for all associated and related genes

  • Also known as: FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED, bHLHe37, MYCN
    Summary: MYCN proto-oncogene, bHLH transcription factor

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