Autosomal dominant intellectual developmental disorder-75 (MRD75) is a neurodevelopmental disorder with highly variable severity and features. Affected individuals have developmental delay and most have mild to severely impaired intellectual development, often accompanied by neuropsychiatric disorders. Additional more variable features may include hypotonia, seizures, nonspecific dysmorphic features, poor overall growth with small head circumference, abnormal brain imaging, and heart disease (Calame et al., 2023). [from OMIM]
Also known as: DDX9, LKP, MRD75, NDH2, NDHII, RHA, DHX9
Summary: DExH-box helicase 9
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