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

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

1 clinical trial for this condition and its sub-types, 0 tagged with NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability itself.