Disease: Gonadal dysgenesis XX type deafness ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
0.710 GeneticVariation BEFREE A family was homozygous for mitochondrial leucyl aminocyl tRNA synthetase (mtLeuRS) (LARS2) p.(Thr522Asn), previously associated with Perrault syndrome. 26970254 2017
Gonadal dysgenesis XX type deafness
CUI: C0685838
Disease: Gonadal dysgenesis XX type deafness
0.710 CausalMutation CLINVAR