Clinical features included fetal hydrocephalus, cleft lip and palate, hydrops fetalis, hepatomegaly, and cerebellar hypoplasia were regarded as filtration parameters for variant screening, seven candidate variants matched with known phenotypes in six genes (WDR81, CCDC88C, TRMU, COL4A1, FGFR3, POMGNT2) were extracted. The gene discussed is POMGNT2; the disease is hydrops fetalis.