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.
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syndromic intellectual disability
MONDO:0000508
non-syndromic intellectual disability
MONDO:0000509
pervasive developmental disorder
MONDO:0000594
Prader-Willi syndrome
MONDO:0008300
intellectual disability, autosomal dominant 29
MONDO:0014482
neurodevelopmental disorder with language impairment and behavioral abnormalities
MONDO:0030060