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Syndromic phenotypes Non-syndromic symptoms Neurological disorders MELAS, LS, MELAS/LS, KSS, CPEO, MERRF, NARP, Migraine, cerebella ataxia, seizures, autism, depression, anxiety, mental retardation, tension-type cluster headaches, polyneuropathy, myelopathy, calcification of basal ganglia Muscle disorders CPEO, MERRF exercise intolerance, muscle atrophy, myalgia, muscle cramp, hypercreatine kinase Hypertrophic cardiomyopathy, dilated cardiomyopathy, conduction Cardiovascular disorders SADS, WPW syndrome, block, ventricular extrasystoles, supraventricular tachycardia, atrial fibrillation, regurgitation of various valves Endocrine disorders MIDD Diabetes, growth hormone deficiency, hyperparathyroidism, hypoparathyroidism hypogonadism, hypothyroidism Ocular impairment NARP, CPEO Pigmentary retinopathy, cortical blindness, visual field defect, night blindness, cataract, macular dystrophy and optic atrophy Otolaryngologic impairment MIDD sensorineural hearing loss; bilateral vestibular loss Digestive system IPO Vomiting, diarrhea, constipation, acute pancreatitis, celiac disease Kidney impairment none renal failure, nephropathy, maternal hereditary recurrent kidney stone, renal tubular acidosis Pregnancy and delivery none Miscarriage, gestational diabetes, premature delivery, intrauterine growth retardation, preeclampsia, cesarean section Others none short statures, stuttering, hypertriglyceridaemia, hair loss, Hypertrichosis, Dark complexion MELAS - mitochondrial encephalomyopathy, lactic acidosis, stroke-like attack; LS - Leigh syndrome; KSS - Keams- Sayre syndrome; CPEO - chronic progressive external ophthalmoplegia; NARP - neurogenic weakness, ataxia, and retinitis pigmentosa; MERRF - myoclonic epilepsy and ragged-red fiber disease; SADS - sudden adult death syndrome; WPW - Wolff-Parkinson-White syndrome; MIDD - Maternally Inherited Diabetes and Deafness; IPO - Intestinal pseudo-obstruction
