Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Disease data Classification Malformation syndrome Synonyms 22q11.2 microduplication syndrome Dup(22)(q11) Duplikacja 22q11.2 Trisomia 22q11.2 Dup(22)(q11) Duplication 22q11.2 Trisomy 22q11.2 ORPHA code 1727 OMIM code 608363 ICD10 code Q92.3 ICD11 code LD41.M *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