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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
  1. For a full version of the table, please refer to Additional file 1: Table S5