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 |
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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 |