Visit Metagene.de!
Summary
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (MC1DN31)
TIMMDC1
618251
OMIM = Online Medalian Inheritance of Men
2609
3q13.33
very rare
autosomal recessive
mutation in the TIMMDC1 gene
symptoms
abnormal movement
developmental delay
early death
failure to thrive
hearing defect, deafness
hypotonia
neurological deterioration
nystagmus
onset, infancy
peripheral neuropathy
seizures
white matter changes, abnormalities
laboratory finding
MRI, brain, abnormalities -
Literature
Koelker S,et al.Diagnosis and management of glutaric aciduria type I--revised recommendationsJ Inherit Metab Dis343677-6942011