Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
X-linked intellectual disability Van Esch type
0.100 CausalMutation phenotype CLINVAR Defective DNA Polymerase α-Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. 31006512 2019