Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Maternal uniparental disomy of chromosome 22 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Disease data Classification Malformation syndrome Synonyms UPD(22)mat UPD(22)mat ORPHA code 96188 OMIM code - ICD10 code Q99.8 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