Table 1.
Main Clinical Presentation of Proband K10031-10232
| Clinical manifestations | HPO# |
|---|---|
| Development and growth | |
| Delayed speech and language development | 0000750 |
| Growth hormone deficiency | 0000824 |
| Poor fine motor coordination | 0007010 |
| Mild intellectual disability | 0001256 |
| Facial features | |
| Almond-shaped eyes | 0007874 |
| Downslanted palpebral fissures | 0000494 |
| Narrow forehead | 0000341 |
| Other physical features | |
| Cryptorchidism | 0000028 |
| Excessive daytime sleepiness | 0002189 |
| Obstructive sleep apnea syndrome | 0002870 |
| Scoliosis | 0002650 |
| Behavior features | |
| Aggressive behavior | 0000718 |
| Anxiety | 0000739 |
| Depression | 0000716 |
| Impaired ability to form peer relationships | 0000728 |
| Impaired social reciprocity | 0012760 |
| Inflexible adherence to routines or rituals | 0000732 |
| Irritability | 0000737 |
| Low frustration tolerance | 0000744 |
| Obsessive-compulsive disorder | 0000722 |
| Pain insensitivity | 0007021 |
| Polyphagia | 0002591 |
| Poor eye contact | 0000817 |
| Restrictive behavior | 0000723 |
| Short attention span | 0000736 |
For a full version of the table, please refer to Additional file 1: Table S5