deafness-encephaloneuropathy-obesity-valvulopathy syndrome
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated.
MONDO:0018151
coenzyme Q10 deficiency
is_a
COQ10D2
related
coenzyme Q10 deficiency, primary, 2
related
coenzyme Q10 deficiency, primary, type 2
exact
hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome
exact
SPBPJ4664.01