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Summary
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY
ATP SYNTHASE DEFICIENCY
604273
OMIM = Online Medalian Inheritance of Men
254913
17p11.2
rare
autosomal recessive
symptoms
cardiomegaly
cardiomyopathy
cardiomyopathy, hypertrophic
dysmorphism
epilepsy
failure to thrive
hepatomegaly (large liver)
hypotonia
lactic acidosis
microcephaly
onset, infant
psychomotor retardation
seizures
short stature
laboratory finding
Lactate increasedplasma
3-Methylglutaconic acid increasedurine
Literature