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Table 2 Main Clinical Presentation of Proband K10031-10133

From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine

Clinical manifestations HPO#
Cardiovascular
 Bradycardia 0001662
 Patent foramen ovale 0001655
 Syncope 0001279
 Tachycardia 0001649
Eyes
 Diplopia 0000651
 Peripheral vision NF
Gastrointestinal
 Gastroparesis 0002578
 Nausea 0002018
Gynecologic & genitourinary
 Urinary retention 0000016
 Urinary incontinence 0000020
Musculoskeletal
 Arthralgia 0002829
 Joint stiffness 0001387
Neurological
 Apraxia 0002186
 Arthritis 0001369
 Auditory hallucinations 0008765
 Convulsions NF
 Dizziness NF
 Dysarthria 0001260
 Fatigue 0012378
 Frequent falls 0002359
 Heat intolerance 0002046
 Migraine 0002076
 Seizure 0001250
 Tremor (Postural/Resting) 0002174/0002322
 Visual hallucinations 0002367
Respiratory
 Asthma 0002099
Psychiatric
 Anxiety 0000739
 Depression 0000716
  1. Abbreviation: NF, Not found. For a full version of the table, please refer to Additional file 1: Table S6