Microcephalic primordial dwarfism due to ZNF335 deficiency

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by 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.

Also known as: microcephalic primordial dwarfism, Walsh type, MCPH10, microcephaly 10, primary, autosomal recessive, primary autosomal recessive microcephaly 10

58 clinical trials for this condition and its sub-types.