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 GeneticVariation disease BEFREE Mutations or disruption of ARHGEF9 due to chromosomal rearrangements have been found in three patients with various clinical presentations: nevertheless, all 3 presented with MR and 2 with epilepsy. 21626670 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 GeneticVariation disease BEFREE A cohort study of ARHGEF9 nucleotide sequence identified a nonsense mutation in another male patient with severe mental retardation and epilepsy. 21633362 2011
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.120 Biomarker disease HPO