A female patient (ID: 98) presenting with hydrocephalus, autistic features, GDD, microcephaly, hypotonia, and dysmorphic facial features was diagnosed with congenital contractures of the limbs and face, hypotonia, and developmental delay, and neurodevelopmental disorder with severe motor impairment and absent language caused by an assumed de novo variant (NM_052867.2:c.3731 T > G) in the NALCN gene and a known pathogenic variant (NM_138615.2: c.2344C > T) in the DHX30 gene, respectively. Here, DHX30 is linked to Hydrocephalus.