PPFIA3-related neurodevelopmental disorder

[ens-ecibrian]

Preferred gene-related syndrome label PPFIA3-related neurodevelopmental disorder

Synonyms

Parent term (use OLS, or your favorite ontology browser) MONDO_0100500

Definition A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID:38181735

Children terms (if applicable) Should any existing terms be re-classified as children underneath this new proposed term?

Your nano-attribution (ORCID) or URL for a working group 0000-0002-0987-9862