Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare chromosomal anomaly comprising variable parts of chromosome 8. The phenotype of mosaic or non-mosaic supernumerary r(8)/mar(8) ranges from almost normal to variable degrees of minor abnormalities, and growth and mental retardation overlapping with the well-known mosaic trisomy 8 syndrome. Disease data Classification Malformation syndrome Synonyms Ring 8 Chromosom pierścieniowy 8 Supernumerary ring/marker 8 Ring chromosome 8 r(8) syndrome ORPHA code 1450 OMIM code - ICD10 code Q93.2 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