Table. 1 Demographic and clinical features of the ALGS cohort who underwent GS.

From: Genome sequencing increases diagnostic yield in clinically diagnosed Alagille syndrome patients with previously negative test results

Patient characteristics

n (%)

Median age at enrollment, years (range)

5.7 (0.25–26)

Women

8 (44.4%)

Geographic location of patient referral

  CHOP

3 (16.7%)

  New York

2 (11.1%)

  Vietnam

2 (11.1%)

  Brazil

1 (~5.6%)

  Denmark

1 (~5.6%)

  England

1 (~5.6%)

  India

1 (~5.6%)

  Massachusetts

1 (~5.6%)

  Mississippi

1 (~5.6%)

  North Carolina

1 (~5.6%)

  Tennessee

1 (~5.6%)

  Turkey

1 (~5.6%)

  Virginia

1 (~5.6%)

  Washington

1 (~5.6%)

Clinical features

  Hepatic

18 (100%)

  Cardiac

16 (88.9%)

  Posterior embryotoxon

9 (64.3%)a

  Family history

6 (54.6%)a

  Butterfly vertebrae

6 (46.5%)a

  Facies

6 (46.5%)a

  Renal

6 (46.5%)a

  1. aOf those reporting. See Table S1 for patient-specific phenotypes.