Table 2.

Main Clinical Presentation of Proband K10031-10133

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

Abbreviation: NF, Not found. For a full version of the table, please refer to Additional file 1: Table S6