NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability

Definition

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.

Also known as NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability — per MONDO