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Дисгенезія ниркових канальців

ORPHA:3033· ICD-10 Q63.8· Renal tubular dysgenesis

Визначення(English summary)

A rare disorder of the fetus characterized by absent or poorly developed proximal tubules of the kidneys, persistent oligohydramnios, leading to Potter sequence (facial dysmorphism with large and flat, low-set ears, lung hypoplasia, arthrogryposis and limb positioning defects), and skull ossification defects.

Поширеність
Unknown
Успадкування
Autosomal recessive, Not applicable
Вік початку
Antenatal