Autozomálně recesivní · Very rare; only a small number of families have been reported.
Caused by loss-of-function changes in both copies of NUP188, a component of the nuclear pore complex. Each parent usually carries one changed copy.
Příznaky a projevy
Congenital cataracts, low muscle tone and microcephaly are typical, with brain differences such as hydrocephalus or a thin corpus callosum (the band joining the two halves of the brain). Congenital heart defects and breathing problems are also reported. The prognosis is poor.
Co se diagnózou změní
Care is supportive, addressing breathing, cataracts and heart problems. Genetic counselling, carrier testing of relatives and testing in future pregnancies are possible once the familial variants are known.
Analyzované geny
Známé také jako
SANDSTEF
