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DIABETES AND DEAFNESS, MATERNALLY INHERITED (MIDD)

DIABETES AND DEAFNESS, MATERNALLY INHERITED (MIDD)
BALLINGER-WALLACE SYNDROME
520000
OMIM = Online Mendelian Inheritance of Men
225
E13.8
rare
mitochorndrial inheritance
mutation in several mitochondrial genes (MTTL1, MTTE, MTTK)
Laboratory findings    D-Glucose inc (plasma)
Symptoms    cardiomyopathy
    diabetes mellitus
    diarrhea
    dysarthria
    fatigue, severe or unusual
    hearing defect, deafness
    hyperglycemia
    macular dystrophy
    myopathy
    onset, adolescent
    onset, adulthood
    onset, childhood
    ophthalmoplegia
    ptosis (drooping eyelid)
    renal dysfunction, renal defects
    retinal or macular degeneration
    retinopathy
    seizures