Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982. Disease data Klasyfikacja Disease Kod ORPHA 977 Kod OMIM 300270 Kod ICD10 E27.4 Kod ICD11 5A74.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