Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism. Disease data Klasyfikacja Malformation syndrome Synonimy Del(2)(q24) Del(2)(q24) Monosomia 2q24 Monosomy 2q24 Kod ORPHA 1617 Kod OMIM - Kod ICD10 Q93.5 Kod ICD11 LD44.20 *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