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Up to: Mendelian neurodevelopmental disorder
CNOT9-related developmental disorder with seizures
A neurodevelopmental disorder caused by variation in the CNOT9 gene. This disorder is characterised by moderate-to-severe intellectual disability, delayed or absent speech development, delayed motor development. Most patients present seizures, muscular hypotonia, facial dysmorphism, and behavioral abnormalities.
This condition has no sub-types.