Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare developmental defect during embryogenesis characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders. Disease data Classification Malformation syndrome Synonyms Atrophia bulborum hereditaria Choroba Norriego i Warburga Dziedziczna atrofia opuszkowa Ślepota Episkopi Episkopi blindness Norrie-Warburg disease ORPHA code 649 OMIM code 310600 ICD10 code H35.5 ICD11 code LD21.Y *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