NHLRC2, NHL repeat containing 2, 374354

N. diseases: 37; N. variants: 2
Disease: Asymmetrical conjoined twins ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266742
Disease: Asymmetrical conjoined twins
Asymmetrical conjoined twins 		0.010 GeneticVariation disease BEFREE The recent occurrence of three similar cases in the same ethnic group from Niger, three from consanguineous parents, suggests that genetic factors are likely to contribute significantly to the genesis of this syndrome, consistent with a recent report that mutation of the bovine NHLRC2 gene resulting in a V311A substitution at a highly conserved locus in the NHLRC2 protein is, when homozygous, causally associated with several forms of polymelia including notomelia, with heteropagus conjoined twinning and with other NTD-related embryonic malformations. 28083641 2017