Table 3.
Human Phenotype Ontology (HPO) terms occurring in over 10% of adult exome cases
| HPO term | Number of occurrences | Percent of cases |
|---|---|---|
| Motor delay | 123 | 25.3% |
| Intellectual disability | 121 | 24.9% |
| Seizures | 113 | 23.3% |
| Delayed speech and language development | 110 | 22.6% |
| Abnormality of movement | 78 | 16.0% |
| Spasticity | 78 | 16.0% |
| Hypertonia | 78 | 16.0% |
| Ataxia | 75 | 15.4% |
| Scoliosis | 68 | 14.0% |
| Muscular hypotonia | 64 | 13.2% |
| Abnormality of brain morphology | 63 | 13.0% |
| Abnormal face shape | 62 | 12.8% |
| Joint hypermobility | 60 | 12.3% |
| Short stature | 58 | 11.9% |
| Abnormality of the eye | 58 | 11.9% |
| Abnormality of the skin | 51 | 10.5% |