| HP:0000006 | Autosomal dominant inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators] |
Show
|
| HP:0000767 | Pectus excavatum | "A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance." [HPO:curators] |
Show
|
| HP:0001252 | Muscular hypotonia | "Muscular hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle), often involving reduced muscle strength. Hypotonia is characterized by a diminished resistance to passive stretching." [HPO:curators] |
Show
|
| HP:0001315 | Reduced reflexes | |
Show
|
| HP:0001645 | Sudden cardiac death | |
Show
|
| HP:0001663 | Ventricular fibrillation | |
Show
|
| HP:0001670 | Asymmetric septal hypertrophy | |
Show
|
| HP:0001962 | Palpitations | |
Show
|
| HP:0002094 | Dyspnea | |
Show
|
| HP:0002205 | Recurrent respiratory infections | |
Show
|
| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
Show
|
| HP:0002650 | Scoliosis | "The presence of an abnormal lateral curvature of the spine." [HPO:curators] |
Show
|
| HP:0003198 | Myopathy | |
Show
|
| HP:0004755 | Supraventricular tachyarrhythmias | |
Show
|
| HP:0004756 | Ventricular tachycardia | |
Show
|
| HP:0005144 | Left ventricular septal hypertrophy | |
Show
|
| HP:0100749 | Chest pain | |
Show
|
