A 15-week fetus (case 97406) with limb atrophy, body weight at the 91 percentile, abdominal muscle agenesis, mild hydrocephaly, choroid plexus cysts, muscular and corticospinal tract atrophy , and kidney weight at the 99 percentile (observed to expected ratio of kidney weight to heart weight: 3.38, 1.99 in that order) was found to have a homozygous alteration in DIS3L2 (c.211-1G > A) which is predicted to disrupt the highly conserved acceptor splice site of axon 4. This evidence concerns the gene DIS3L2 and Hydrocephalus.