LEMD3, LEM domain containing 3, 23592

N. diseases: 112; N. variants: 5
Disease: 12q14 microdeletion syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		0.310 GeneticVariation phenotype BEFREE This case further clarifies the association of LEMD3 deletions with the 12q14 microdeletion syndrome and provides additional support for the role of the HMGA2 gene in human growth. 22987822 2012
CUI: C4305140
Disease: 12q14 microdeletion syndrome
12q14 microdeletion syndrome 		0.310 ChromosomalRearrangement phenotype ORPHANET Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. 17220210 2007