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Table 1 Demographic and clinical characteristics of the eligible patients

From: Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders

Variables

Eligible patients (n = 5055)

Gender (n, %)

Male

2230 (44.1)

Female

2825 (55.9)

Onset age (n, %)

Infancy

1357 (26.8)

Neonatal

1257 (24.9)

Childhood

1093 (21.6)

Adult

888 (17.6)

Antenatal

269 (5.3)

Adolescent

183 (3.6)

Elderly

4 (0.1)

Unknown

4 (0.1)

Symptoms (n, %)

Nervous system

2280 (45.1)

Musculoskeletal system

1722 (34.1)

Head or neck

1231 (24.4)

Cardiovascular system

1125 (22.3)

Eye

1057 (20.9)

Metabolism/homeostasis

847 (16.8)

Integument

834 (16.5)

Limbs

719 (14.2)

Genitourinary system

714 (14.1)

Growth

794 (15.7)

Ear

637 (12.6)

Digestive system

591 (11.7)

Blood and blood-forming tissues

408 (8.1)

Endocrine system

384 (7.6)

Immune system

385 (7.6)

Respiratory system

208 (4.1)

Neoplasm

148 (2.9)

Prenatal development or birth

103 (2.0)

Constitutional symptom

118 (2.3)

Breast

35 (0.7)

Cellular

45 (0.9)

Voice

25 (0.5)

Thoracic cavity

1 (0.0)