Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Del(2)(q24) Del(2)(q24) Monosomia 2q24 Monosomy 2q24 ORPHA code 1617 OMIM code - ICD10 code Q93.5 ICD11 code 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