Disease: Severe intellectual disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE We recently identified two de novo loss-of-function mutations in GATAD2B by whole exome sequencing in two unrelated individuals with severe intellectual disability. 23644463 2013
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE Recently, patients with severe intellectual disabilities and characteristic features associated with GATAD2B mutations have been identified. 30482549 2019