Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Disease data Klasyfikacja Malformation syndrome Synonimy Del(9)(p13) Del(9)(p13) Monosomia 9p13 Monosomy 9p13 Kod ORPHA 324313 Kod OMIM - 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