CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
Findings
No curated finding names CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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 from the Mondo Disease Ontology (MONDO:1040008), 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.
- CAMK2DHGNC:1462
- Strong · ClinGen · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025