Disease: Mental Retardation ×
Source: BEFREE ×
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mental Retardation
CUI: C0025362
Disease: Mental Retardation
0.010 GeneticVariation BEFREE Q70X is one of the frequent diseases causing mutations of alpha-L-iduronidase (IDUA), leading to a severe phenotype with mental retardation and various somatic abnormalities, and making a request for PGD is understandable. 16478590 2006