Table 1.
Frequency of the top 20 Human Phenotype Ontology (HPO) terms used to describe features of 357 probands referred for exome sequencing
| HPO ID | HPO term | Number of probands (%) |
|---|---|---|
| HP:0001263 | Global developmental delay | 262 (73.4) |
| HP:0001999 | Abnormal facial shape | 183 (51.3) |
| HP:0001252 | Muscular hypotonia | 182 (51.0) |
| HP:0000750 | Delayed speech and language development | 157 (44.0) |
| HP:0001270 | Motor delay | 136 (38.1) |
| HP:0002194 | Delayed gross motor development | 127 (35.6) |
| HP:0001250 | Seizures | 119 (33.3) |
| HP:0100543 | Cognitive impairment | 98 (27.5) |
| HP:0001508 | Failure to thrive | 91 (25.5) |
| HP:0004322 | Short stature | 90 (25.2) |
| HP:0007010 | Poor fine motor coordination | 77 (21.6) |
| HP:0000252 | Microcephaly | 74 (20.7) |
| HP:0002020 | Gastroesophageal reflux | 69 (19.3) |
| HP:0000729 | Autistic behavior | 69 (19.3) |
| HP:0000717 | Autism | 59 (16.5) |
| HP:0001290 | Generalized hypotonia | 57 (16.0) |
| HP:0001622 | Premature birth | 56 (15.7) |
| HP:0002019 | Constipation | 56 (15.7) |
| HP:0001510 | Growth delay | 52 (14.6) |
| HP:0002376 | Developmental regression | 50 (14.0) |