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Table 3 Clustered HP phenotypes and sequencing results in patients with intellectual disabilities in Peruvian children

From: Identification of intragenic variants in pediatric patients with intellectual disability in Peru

Clustered phenotypes according to HP

Pathogenic or likely pathogenic variants

PRc

CI (95%)

p

PRa

CI (95%)

p

Dermatological alterations

1.888

1.113–3.204

0.0299

2.350

1.243–4.441

0.008

Thoraco-abdominal and spinal column anomalies

1.928

1.074–3.462

0.0551

2.218

1.174–4.189

0.014

Craniofacial dysmorphism

0.652

0.386–1.102

0.1191

0.443

0.230–0.853

0.015

Tone and strength abnormalities / dystrophy / neuropathy

1.544

0.911–2.618

0.1179

1.881

1.099–3.219

0.021

Upper limb anomalies

1.174

0.669–2.057

0.5813

1.712

0.947–3.097

0.075

Genitourinary anomalies

0.633

0.178–2.252

0.4463

0.460

0.187–1.132

0.091

Lower limb anomalies

0.392

0.061–2.499

0.2497

0.301

0.059–1.523

0.147

Brain anomalies

1.104

0.540–2.256

0.7890

1.425

0.655–3.001

0.371

Seizures/ abnormal movements

1.177

0.678–2.041

0.5670

1.222

0.679–2.199

0.504

Ocular anomalies

0.894

0.447–1.788

0.7482

0.828

0.443–1.545

0.553

Endocrinological alterations

1.432

0.583–3.521

0.6397

0.809

0.350–1.865

0.619

Height alterations

0.649

0.318–1.327

0.2115

0.831

0.399–1.727

0.620

Hematological conditions

0.811

0.145–4.520

0.0850

0.678

0.126–3.677

0.652

Other neurodevelopmental disorders

0.995

0.420–2.357

0.9918

1.239

0.467–3.288

0.666

Hearing impairment

0.643

0.109–3.789

0.5982

1.336

0.275–6.490

0.710

Congenital heart defects

-

-

-

-

-

-

Tumors

-

-

-

-

-

-

  1. PR = Prevalence ratio; CI = Confidence interval, HP = Human Phenotype. * Instituto Nacional de Salud del Niño Breña. n = 124