NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability
Findings
No curated finding names NACC1-related neurodevelopmental disorder with epilepsy, cataracts and episodic irritability yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0800475), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NACC1HGNC:20967
- Definitive · ClinGen · Autosomal dominant · 2023