Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0009918
Disease: Contracture of joint
Contracture of joint
0.010 GeneticVariation disease BEFREE Recently, a heterozygous deletion of EXOC6B along with a deletion of the CYP26B1 gene has been reported in a boy with intellectual disability, speech delay, hyperactivity, facial asymmetry, a dysplastic ear, brachycephaly, and mild joint contractures. 25256811 2014