DIS3L2

Clinical Characteristics

Prenatal features described in at least a half of cases include polyhdramnios, fetal ascites, macrosomia and nephromegaly.
Frequent (>50%) neonatal/postnatal features include birth weight >97th centile, organomegaly, hypotonia, cryptorchidism, nephroblastomatosis and islet cell hyperplasia. Wilms tumor was reported in about a third of cases. Facial features include broad depressed nasal bridge, everted upper lip, deep set eyes, low set ears and, less frequently, prominent forehead, micrognathia and a round, full face.