Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion is a rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common. Disease data Classification Clinical subtype Synonyms 10p12p11 microdeletion syndrome Del(10)(p11.21p12.31) Delecja 10p11.21p12.31 Monosomia 10p11.21p12.31 Zespół mikrodelecji 10p12p11 Del(10)(p11.21p12.31) Deletion 10p11.21p12.31 Monosomy 10p11.21p12.31 ORPHA code 284169 OMIM code 616708 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