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ELAVL2

HGNC ↗

ELAVL2-related neurodevelopmental disorder

1 article(s) in the watch · Constitutional genetics

Curated publications

9/10

Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.

ELAVL2-related neurodevelopmental disorder

Gén.11 August 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗

Automatic aggregation page — a clinical introduction may be added.