In this study11, one individual with a de novo missense variant in LGALS3BP (individual 1, c.1108 G > A [p.Glu370Lys]; RefSeq NM_005567.4) was diagnosed with developmental delay, autism, dysarthria, ataxia, and focal seizures at 3 years of age. The gene discussed is LGALS3BP; the disease is Ataxia.