Synonym(s): - Nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
DIS3L2	Q8IYB7	614184

- Autosomal recessive inheritance
- Broad nasal root
- Deepset eyes / enophthalmos
- Hepatomegaly / liver enlargement (excluding storage disease)
- High forehead
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mouth held open
- Philtrum flat / large / featureless / absent cupidon bows
- Round face
- Short / small nose
- Tall stature / gigantism / growth acceleration

- Anteverted nares / nostrils
- Broad alveolar ridge
- Epicanthic folds
- Helix thickened / sculpted
- High vaulted / narrow palate
- Hyperinsulinism / hyperinsulinemia
- Low set ears / posteriorly rotated ears
- Micropenis / small penis / agenesis
- Nephroblastoma / Wilms tumor
- Polyhydramnios
- Structural anomalies of the pancreas
- Undescended / ectopic testes / cryptorchidia / unfixed testes

- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Dolichocephaly / scaphocephaly
- Inguinal / inguinoscrotal / crural hernia
- Ptosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease