Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 12q14 microdeletion syndrome is characterised by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the <i>LEMD3</i> gene: mutations in this gene have already been implicated in osteopoikilosis. Disease data Classification Malformation syndrome Synonyms Del(12)(q14) Del(12)(q14) Delecja 12q14 Monosomia 12q14 Osteopoikilia - niski wzrost - niepełnosprawność intelektualna Deletion 12q14 Monosomy 12q14 Osteopoikilosis-short stature-intellectual disability syndrome ORPHA code 94063 OMIM code - 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