Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare constitutional hemolytic anemia that is characterised by the association of Alport syndrome, midface hypoplasia, intellectual deficit and elliptocytosis. It has been described in two families. The syndrome is transmitted as an X-linked trait is caused by a contiguous gene deletion in Xq22.3 involving several genes including <i>COL4A5</i>, <i>FACL4</i> and <i>AMMECR1</i>. Disease data Klasyfikacja Disease Synonimy AMME complex ATS-MR Kompleks AMME Zespół AMME AMME syndrome ATS-MR Kod ORPHA 86818 Kod OMIM 300990 Kod ICD10 Q87.8 Kod ICD11 - *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