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.
MONDO:0016660
autosomal recessive primary microcephaly
is_a
MONDO:0018230
skeletal dysplasia
is_a
MCPH10
related
microcephalic primordial dwarfism, Walsh type
exact
microcephaly 10, primary, autosomal recessive
related