Coenzyme Q10 Deficiency, Primary, 2 (COQ10D2)

Coenzyme Q10 Deficiency, Primary, 2, also known as deafness-encephaloneuropathy-obesity-valvulopathy syndrome, is related to intellectual developmental disorder, x-linked, syndromic, billuart type and mitochondrial dna depletion syndrome. An important gene associated with Coenzyme Q10 Deficiency, Primary, 2 is PDSS1 (Decaprenyl Diphosphate Synthase Subunit 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Nephrotic syndrome. Affiliated tissues include kidney and liver, and related phenotypes are macrocephaly and hearing impairment