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.
MONDO:0001071
intellectual disability
is_a
MONDO:0100038
complex neurodevelopmental disorder
is_a
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
exact