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Summary
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 25 COXPD25
616430
OMIM = Online Medalian Inheritance of Men
447954
2q33.1
rare
autosomal recessive
mutation in the MARS2 gene
symptoms
cerebellar atrophy or hypoplasia
cerebral atrophy
developmental delay
dysmorphism
feeding difficulties, poor feeding
growth retardation, poor growth
hearing defect, deafness
hypotonia
onset, neonatal
short stature
laboratory finding
MRI, brain, abnormalities -
Human growth hormone (hGH) decreasedserum
Lactic acid normal-increasedserum
3-Methylglutaconic acid normal-increasedurine
Literature