Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Congenital cataract-hearing loss-severe developmental delay syndrome is a rare, genetic, lethal, neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe, generalized muscular hypotonia, and central nervous system abnormalities (incl. cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces), in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. Disease data Classification Disease Synonyms Congenital cataract-deafness-severe developmental delay syndrome Śmiertelne zaburzenie neurodegeneracyjne z powodu defektu transportu miedzi Zespół zaćma wrodzona-głuchota-znaczne opóźnienie rozwoju Huppke-Brendel syndrome Lethal neurodegenerative disorder due to copper transport defect ORPHA code 300313 OMIM code 614482 ICD10 code E88.8 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