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Summary
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (MC3DN7)
615824
OMIM = Online Medalian Inheritance of Men
1460
6p21.31
rare
autosomal recessive
mutation in the UQCC2 gen
symptoms
behavior, autism or autistic-like
behavior, hyperactive, restless
behavior. aggressive
developmental delay
dysmorphism
hearing defect, deafness
hypotonia
intrauterine growth retardation
metabolic acidosis
onset, infancy
polydactyly
psychomotor retardation
seizures
testes, undescended
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Lee EH,et al.A case of Bartter syndrome type I with atypical presentationsKorean J Pediatr538809-8132010
Gross I,et al.Antenatal Bartter syndrome presenting as hyperparathyroidism with hypercalcemia and hypercalciuria: a case report and reviewJ Pediatr Endocrinol Metab287943-9462015