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Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (MC1DN15)
C6ORF66
618237
OMIM = Online Medalian Inheritance of Men
2609
6q16.1
very rare
autosomal recessive
mutation in the C6ORF66 gene
symptoms
basal ganglia, changes, lesions, calcifications (MRI, CT)
cardiomyopathy
cardiomyopathy, hypertrophic
contractures, joints
decreased spontaneous movements
dystonia
early death
encephalopathy
failure to thrive
hearing defect, deafness
hyperreflexia
hypotonia
intrauterine growth retardation
irritability
myopathy
nystagmus
onset, neonatal
optic atrophy
seizures
skoliosis, kyphoskoliosis
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
L-Lactic acid mmol/lserum
L-Lactic acid mmol/lcerebrospinal fluid
Literature
Ucar A,et al.Relative hypoaldosteronism in a patient with Wolcott-Rallison syndromeDiabet Med333e13-162016
Rivera E,et al.En bloc multiorgan transplant (liver, pancreas, and kidney) for acute liver and renal failure in a patient with Wolcott-Rallison syndromeLiver Transpl223371-3742016