FOXG1, forkhead box G1, 2290

N. diseases: 224; N. variants: 51
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 GeneticVariation group BEFREE We recommend that patients with congenital RTT and Rett-like MR, especially those with brain malformations, such as hypoplasia of the corpus callosum, should be tested for FOXG1 mutations. 28851325 2017
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group CTD_human A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features. 18627055 2008
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.410 Biomarker group HPO