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Microcephalic primordial dwarfism due to ZNF335 deficiency

rare

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.

Identifiers
MONDO:0014043 OMIM:615095Orphanet:329228
Causal genes
ZNF335
Part of
Autosomal recessive primary microcephalySkeletal dysplasia
Also known as
MCPH10 · microcephalic primordial dwarfism, Walsh type · microcephaly 10, primary, autosomal recessive

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