ZMIZ1 and Intellectual disability: After comprehensive bioinformatic analysis, a de novo missense variant (c.2330G > A, p.Gly777Glu, or p.G777E) was identified in the exon 20 of ZMIZ1 in a 5-year-old girl with mild development delay, mild intellectual disability, bilateral hip dysplasia, joint hypermobility, amblyopia in both eyes, strabismus in the right eye, and dysmorphic facial features.