One novel fame-shift deletion (c.550_556delCCTTTAG/p.P184Cfs*9) in the WDR26 gene was detected in an infant with absence seizures and febrile seizures, ventriculomegaly, intellectual/developmental disabilities, congenital heart disease, facial dysmorphism, and yellow hair. The gene discussed is WDR26; the disease is Ventriculomegaly.