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COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33
617713
OMIM = Online Mendelian Inheritance of Men
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Complement component 1 Q subcomponent-binding protein, mitochondrial
17p13.2
rare
autosomal recessive
mutation in the C1QBP gene
Laboratory findings    Creatine kinase inc (serum)
    L-Lactic acid inc (plasma)
    Transaminases (ASAT/ALAT) normal/inc (serum)
Symptoms    bleeding tendencies, hemorrhages
    cardiomyopathy
    cardiomyopathy, hypertrophic
    edema
    encephalopathy
    exercise intolerance
    hearing defect, deafness
    hepatomegaly (large liver)
    hypothyroidism
    intrauterine growth retardation
    lactic acidosis
    liver involvement or dysfunction
    muscle weakness
    myopathy
    oligohydramnion (maternal)
    onset, adulthood
    onset, neonatal
    ophthalmoplegia
    peripheral neuropathy
    ptosis (drooping eyelid)
    renal failure, acute/chronic
    respiratory insufficiency