PRPF19-related neurodevelopmental disorder

[ens-ecibrian]

Preferred gene-related syndrome label PRPF19-related neurodevelopmental disorder

Synonyms

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

Definition A neurodevelopmental disorder caused by variation in the PRPF19 gene. This disorder is characterised by developmental, motor and speech delay, and facial dysmorphisms. Most patients present mild to moderate intellectual disability, autism spectrum disorder or autistic features, and hypotonia. Other phenotypes observed less frequently include seizures, and visual and cardiac abnormalities.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID:37962958

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

Additional comments Request from the G2P team (EMBL-EBI)