CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

[ens-ecibrian]

Preferred gene-related syndrome label CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

Synonyms

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

Definition A neurodevelopmental disorder caused by variation in the CAMK2D gene. This disorder is characterised by intellectual disability, speech and motor delay, behavioural problems and dilated cardiomyopathy. Patients often present brain structural anomalies and hypotonia, and less frequently, seizures.

Definition source (Please give PubMed ID, if applicable, in format PMID:#######) PMID:38272033

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)