Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated. Disease data Klasyfikacja Malformation syndrome Synonimy Distal del(16)(p11.2) Dystalna del(16)(p11.2) Monosomia dystalna 16p11.2 Distal monosomy 16p11.2 Kod ORPHA 261222 Kod OMIM 613444 Kod ICD10 Q93.5 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