CNTN4 and hearing loss disorder: We had the opportunity to reevaluate a child who initially presented at 17 months with microcephaly, short stature, spastic diplegia, developmental delay, hearing impairment, and autism who was found to have a maternally inherited 1.63Mb 3p26 duplication involving genes CNTN6, CNTN4, and CNTN4-AS2. At age 7 years, his phenotype was notable for additional findings: dysmorphic features including large central incisors, ADHD, and episodes of dystonia of the right side that interfered with ambulation.