Microcephalic primordial dwarfism due to ZNF335 deficiency
Synonyms: Microcephalic primordial dwarfism, Walsh type
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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Microcephalic primordial dwarfism due to ZNF335 deficiency?
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