| Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13. |
