CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
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.
MONDO:0100500
Mendelian neurodevelopmental disorder
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