Megalencephaly-postaxial…

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Megalencephaly-postaxial polydactyly-ventriculomegaly-neuroblastoma syndrome

ORPHA:730286Malformation syndrome

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Inheritance
Autosomal dominant
Classified as
Malformation syndrome

Gene

MYCNDisease-causing germline mutation(s) (gain of function)

Cross-references

OMIM 620748

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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