KCNK3-related developmental delay with sleep apnea

MONDO:0700360

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.

0 clinical trials for this condition and its sub-types, 0 tagged with KCNK3-related developmental delay with sleep apnea itself.

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↑ Mendelian neurodevelopmental disorder (208)

Including sub-types (0) Tagged with KCNK3-related developmental delay with sleep apnea (0)

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