Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 12p12.1 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterized by intellectual disability, global developmental delay with prominent language impairment, behavioral abnormalities and mild facial dysmorphism (incl. frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia, and brain malformations. Disease data Classification Clinical subtype Synonyms Del(12)(p12.1) Del(12)(p12.1) Monosomia 12p12.1 Monosomy 12p12.1 ORPHA code 313884 OMIM code 616803 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