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 |