Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.020 Biomarker disease BEFREE This study delineates the clinical features associated with BRWD3 null variants and partial gene deletions, and suggests that BRWD3 should be included in the differential diagnosis of patients with an overgrowth-intellectual disability (OGID) phenotype, particularly in male patients with a mild or moderate intellectual disability associated with macrocephaly and/or obesity. 31714006 2019
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability
0.020 GeneticVariation disease BEFREE Clinical assessment of five patients with BRWD3 mutation at Xq21.1 gives further evidence for mild to moderate intellectual disability and macrocephaly. 24462886 2014