COL4A1 and porencephaly: The COL4A1 p.G1044R variant was described as a de novo mutation in a patient with low birthweight, congenital bilateral cataracts, microcephaly, and porencephaly.19 Among the new patients, we found a similar phenotype in a child who died at 6 years of age (no. 24) and had bilateral porencephaly, intractable epilepsy, profound global developmental delay, microphthalmia, and congenital cataracts.