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 |