Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition An X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state. Disease data Classification Malformation syndrome Synonyms Ayazi syndrome Zespół Ayazi Del(X)(q21) Monosomy Xq21 ORPHA code 1435 OMIM code 303110 ICD10 code Q93.5 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