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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 COXPD26
616539
OMIM = Online Medalian Inheritance of Men
477684
14q23.1
rare
autosomal recessive
mutation in the TRMT5 gene
symptoms
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
defect of walking, running, rising or climbing
dysmorphism
exercise intolerance
failure to thrive
growth retardation, poor growth
hyperreflexia
lactic acidosis
malabsorption
onset, infancy
pancreatic insufficiency
sclerae, blue or bluish
speech development, delayed, abnormal
tubulopathy
laboratory finding
Lactic acid3.00 mmol/lplasma
Literature