SPTBN1 and autism spectrum disorder: For instance, although homozygous SPTBN1 mutant mice die in the midterm of gestation, the heterozygous neuron-restricted SPTBN1 mutation in mice presents a number of characteristics observed in patients carrying heterozygous, dominant-negative SPTBN1 variants, including impaired motor abilities, social and learning deficits (i.e., hyperactivity attention-deficit/hyperactivity disorder and autism spectrum disorder), facial dysmorphisms, arrested growth, and smaller weight [9].