Mitochondrial DNA depletion syndrome – TWNK DGUOK MGME1 MPV17 RRM2B SUCLA2 SUCLG1 TK2 TYMP December 8, 2020 Read More »
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) – TWNK December 8, 2020 Read More »
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 – COX15 SCO2 December 8, 2020 Read More »
Sideroblastic anaemia with B-cell immunodeficiency, periodic fevers, and developmental delay – TRNT1 December 8, 2020 Read More »
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation – DARS2 December 8, 2020 Read More »