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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4 (MC3DN4)
615159
OMIM = Online Medalian Inheritance of Men
1460
5q31.1
rare
autosomal recessive
mutation in the UQCRQ gene
symptoms
ataxia
defect of walking, running, rising or climbing
developmental delay
dystonia
hyperreflexia
hypotonia
mental retardation
psychomotor retardation
speech development, delayed, abnormal
laboratory finding
MRI, brain, abnormalities - urine
L-Lactic acid mmol/lserum
Literature
Chuang GT,et al.Antenatal Bartter syndrome resembling nephrogenic diabetes insipidus in a 5-year-old boyJ Formos Med Assoc1155382-3832016