Table 1 Main Clinical Presentation of Proband K10031-10232
From: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine
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 |