Neurooculocardiogenitourinary Syndrome
Autoszomális domináns
Caused by a change in one copy of WDR37. The reported changes include missense and splicing variants, and the ones described have arisen de novo.
Tünetek és jelek
Intellectual disability and seizures, with distinctive facial features. Eye colobomas and other eye differences, heart defects and kidney differences have been reported. Cerebellar malformation and skeletal abnormalities have also been reported.
Mit változtat a diagnózis
Seizure treatment, developmental support and assessment of eyes, heart and kidneys. Reported cases have arisen de novo, but genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
NOCGUS
