In particular, Individual NJ4386 with dysmorphic features, speech and language delay, autism and epilepsy carried compound heterozygous missense variant (c.898G > T;p.Asp300Tyr and c.5288G > A;p.Arg1763Gln) in DOCK9. The second individual (NJ2637) presented with microcephaly (42 cm, -2SD, at 1 years old), global developmental delay and growth delay. The gene discussed is DOCK9; the disease is microcephaly.