Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1
0.300 GermlineCausalMutation disease ORPHANET X chromosome exome sequencing reveals a novel ALG13 mutation in a nonsyndromic intellectual disability family with multiple affected male siblings. 24501762 2014