Condition: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
rs878854416
in
HECW2
gene and
NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE
PMID 27389779
2017 De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia.