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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 13 (MC1DN13)
NDUFA2
618235
OMIM = Online Medalian Inheritance of Men
255241
5q31.3
very rare
autosomal recessive
mutation in the NDUFA2 gene
symptoms
apnea
cardiomyopathy
cardiomyopathy, hypertrophic
cerebral atrophy
demyelinisation
developmental delay
early death
metabolic acidosis
onset, infancy
onset, neonatal
seizures
white matter changes, abnormalities
laboratory finding
Literature
Nir V,et al.Pulmonary manifestations of prolidase deficiencyPediatr Pulmonol51111229-12332016