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Up to: Mendelian neurodevelopmental disorder
KCNK3-related developmental delay with sleep apnea
A neurodevelopmental disorder caused by variation in the KCNK3 gene. This disorder is characterised by global developmental delay, central and/or obstructive sleep apnea. hypotonia, and feeding difficulties. Most patients also present structural malformations, including microcephaly, arthrogryposis/flexion contractures, scoliosis, cleft palate and bilateral talipes, with some facial dysmorphology, and ambiguous genitalia in male probands.
This condition has no sub-types.