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Up to: Mendelian neurodevelopmental disorder
ARF3-related neurodevelopmental disorder
A neurodevelopmental disorder caused by variation in the ARF3 gene. This disorder is characterised by intellectual disability, delayed or absent speech, motor development delay, and brain MRI abnormalitites. Other phenotypes observed less frequently include seizures, hypotonia, acquired microcephaly, dysmorphic features, and cardiac abnormalities.
This condition has no sub-types.