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MAP2K4

HGNC ↗

Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy

1 article(s) in the watch · Constitutional genetics

Curated publications

8/10

De novo MAP2K4 variants cause a novel syndromic neurodevelopmental disorder

Novel syndromic NDD + congenital malformations (mostly genitourinary) + epilepsy

Gén.22 April 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.