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Table 1 Demographics of patients with neurodevelopmental delay/intellectual disability

From: Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Category Number of patients (%)
Sex (male: female) 585 (54.9): 480 (45.1)
Onset at presentation
 Antenatal 10 (0.9%)
 Neonatal (from birth to 4 months) 628 (58.9%)
 Infant (from more than 4 months to1 year) 273 (25.6%)
 Early childhood (from more than1 year to 5 years) 65 (6.1%)
 Childhood (from more than 5 years to 12 years) 77 (7.2%)
 Adolescent (from more than 12 years to 18 years) 10 (0.9%)
 Adult 3 (0.3%)
Average number of human phenotype ontology (HPO) terms 8.6 ± 4.6
Organ involvement
 Nervous system 1065 (100%)
 Musculoskeletal and limb system 767 (71.9%)
 Head or neck, including facial dysmorphism 616 (57.8%)
 Growth 342 (32.1%)
 Eye system 286 (26.8%)
 Ear system 230 (21.6%)
 Cardiovascular system 200 (18.8%)
 Endocrine and metabolism/homeostasis system 185 (17.4%)
 Skin 181 (17.0%)
 Abnormality of prenatal development or birth 167 (15.7%)
 Genitourinary system 146 (13.7%)
 Gastrointestinal system 106 (9.9%)
 Connective tissue system 72 (6.7%)
 Blood and immune system 50 (4.7%)
 Respiratory system 35 (3.3%)
 Neoplasm 22 (2.1%)
Age at whole exome sequencing 6.5 year (min 0–max 47, SD 8.1)
Total number of patients with previous genetic testing 645 (60.6)
 Single gene test 153 (14.4)
 Panel test 13 (1.2)
 Targeted exome sequencing 20 (1.9)
 Chromosome analysis or fluorescence in situ hybridization 355 (33.3)
 Microarray 284 (26.6)
 Multiplex ligation-dependent probe amplification 103 (9.7)
 Mitochondrial full genome sequencing analysis 26 (2.4)
  1. Min, minimum; max, maximum; SD, standard deviation