Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Disease data Klasyfikacja Malformation syndrome Synonimy Del(12)(q15)(q21.1) Del(12)(q15)(q21.1) Delecja 12q15q21.1 Monosomia 12q15q21.1 Deletion 12q15q21.1 Monosomy 12q15q21.1 Kod ORPHA 289513 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