/microcephalic primordial dwarfism due to ZNF335 deficiency

microcephalic primordial dwarfism due to ZNF335 deficiency

Rare Disease

MONDO:0014043

Also Known As

microcephalic primordial dwarfism, Walsh typeMCPH10microcephaly 10, primary, autosomal recessiveprimary autosomal recessive microcephaly 10

Definition

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.