Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Microcephalic primordial dwarfism, Walsh type Pierwotna karłowatość mikrocefaliczna, typ Walsha ORPHA code 329228 OMIM code 615095 ICD10 code Q87.1 ICD11 code - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl