label: NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
label_lc: nacc1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
description: A neurodevelopmental disorder caused by heterozygous variants in NACC1 and characterized by developmental delay, intellectual disability, epilepsy, cataracts, feeding difficulties, and recurring episodes of extreme irritability. Other phenotypes include hypotonia, delayed myelination, microcephaly, stereotypic hand movements, gastrointestinal tract issues, and sleeping problems.