Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 8q21.11 microdeletion syndrome encompasses heterozygous overlapping microdeletions on chromosome 8q21.11 resulting in intellectual disability, facial dysmorphism comprising a round face, ptosis, short philtrum, Cupid's bow and prominent low-set ears, nasal speech and mild finger and toe anomalies. Disease data Classification Malformation syndrome Synonyms Del(8)(q21.11) Del(8)(q21.11) Delecja 8q21.11 Monosomia 8q21.11 Deletion 8q21.11 Monosomy 8q21.11 ORPHA code 284160 OMIM code 614230 ICD10 code Q93.5 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