Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition A rare genetic disorder caused by deletions in the long arm of chromosome 11 (<i>11q</i>) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Disease data Classification Malformation syndrome Synonyms 11q terminal deletion syndrome Del(11)(q23.3) Del(11)(qter) Dystalna delecja 11q Dystalna monosomia 11q Monosomia 11qter Telomerowa delecja 11q Del(11)(q23.3) Del(11)(qter) Distal deletion 11q Distal monosomy 11q Monosomy 11qter Telomeric deletion 11q ORPHA code 2308 OMIM code 147791 ICD10 code Q93.5 ICD11 code LD44.B0 *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