Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 GeneticVariation disease BEFREE The major clinical features of SPTAN1 mutations include epileptic encephalopathy with hypsarrhythmia, no visual attention, acquired microcephaly, spastic quadriplegia and severe intellectual disability. 25631096 2015
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
0.110 Biomarker disease HPO