Table S2: Pertinent Medical History

Patient number Medical history Neurological history Constitutional symptoms dysarthria, loss of bladder & bowel fatigability, frequent 1 continence infections fatigability, heat and cold intolerance, frequent 2 GERD infections fatigability, heat and cold intolerance, frequent 3 cardiac conduction block unilateral hearing loss infections macrocephaly, nystagmus, left sensorineural deafness, neonatal 4 POTS, intermittent proteinuria hypotonia fatigability macrocephaly, hyperopia, fatigability, exercise GERD, chronic diarrhea, esotropia, neonatal hypotonia, intolerance, frequent 5 RBBB ptosis infections seizures, Duane retraction fatigability, exercise 6 GERD, constipation syndrome intolerance, muscle cramps parkinsonism, left hemiplegia, left ventricular dysfunction w/ dysphagia, seizures in infancy, EF 20%, benign adrenal intention tremor, dysmetria, 7 tumor hyperreflexia fatigability, muscle cramps GERD, growth retardation, reactive airway disease, extra- 8 aortic arch microcephaly microcephaly, facial droop, bilateral constipation, growth sensorineural hearing loss, fatigability, heat and cold 9 retardation strabismus, oromotor dyspraxia intolerance chronic diarrhea, failure to 10 thrive frequent infections fatigatbility, frequent 11 GERD, cyclic vomiting infections 12 cryptorchidism, micropenis, 13 constipation microcephaly neutropenia, fatty liver, recurrent pancreatitis, LVH, 14 RBBB refractory epilepsy frequent infections fatigability, heat intolerance, 15 GERD, constipation macrocephaly muscle cramps growth retardation, 16 constipation hypertonia, hyperreflexia fatigability 17 dysarthria fatigability, heat intolerance, 18 GERD, scoliosis, constipation exercise intolerance growth retardation, 19 hypothyroid microcephaly, seizures, headaches fatigability acute renal failure, 20 constipation exercise intolerance congenital cardiomyopathy, growth retardation, anemia, thrombocytopenia, RBBB, 21 cardiomegaly ptosis 22 GERD, constipation macrocephaly 23 GERD fatigability fatigability, exercise oromotor dyspraxia, tremor, ataxia, intolerance, frequent 24 dysarthria infections fatigability, exercise pancreatic exocrine intolerance, frequent 25 insufficiency, chronic diarrhea seizures infections