SLC26A2, solute carrier family 26 member 2, 1836

N. diseases: 198; N. variants: 78
Disease: Pierre Robin Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		0.010 GeneticVariation disease BEFREE A compound heterozygote SLC26A2 mutation resulting in robin sequence, mild limbs shortness, accelerated carpal ossification, and multiple epiphysial dysplasia in two Brazilian sisters. A new intermediate phenotype between diastrophic dysplasia and recessive multiple epiphyseal dysplasia. 23840040 2013