CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

MONDO:1040008

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.

1 clinical trial for this condition and its sub-types, 1 tagged with CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy itself.

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↑ Mendelian neurodevelopmental disorder (208)

Including sub-types (1) Tagged with CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy (1)

Trials to join now! 1

Scientists launch global effort to map rare brain disorders

Knowledge-focused Recruiting now

This study follows 150 children and adults worldwide who have a rare genetic condition affecting CAMK2 genes. Researchers will track development, seizures, behavior, and social skills over time. The goal is to create a clear picture of how the disorder progresses, which can help …

Sponsor: Erasmus Medical Center • Aim: Knowledge-focused

Last updated Jun 27, 2026 09:00 UTC

CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy

Where it sits in the disease tree

Scientists launch global effort to map rare brain disorders