Table 2 HP phenotypes and sequencing results in patients with intellectual disability in Peruvian children

HP:0002714 Downturned corners of mouth

0.392

0.061–2.499

0.2497

0.014

0.002–0.117

< 0.001

HP:0000322 Short filtrum

1.093

0.341–3.499

0.8836

19.792

4.357–89.907

< 0.001

HP:0000486 Strabismus

0.633

0.178–2.252

0.4463

0.118

0.035–0.398

0.001

HP:0000286 Epicanthus

0.532

0.087–3.245

0.4464

0.223

0.077–0.645

0.006

HP:0009305 Distal/middle symphalangism of 4th finger

2.197

1.194–4.041

0.0433

2.890

1.162–7.194

0.022

HP:0000179 Thick lower lip vermilion

1.090

0.215–5.523

0.9186

1.899

1.069–3.373

0.029

HP:0001332 Dystonia

2.800

1.660–4.720

0.0145

2.880

1.062–7.810

0.038

HP:0000396 Overfolded helix

1.667

0.603–4.609

0.3934

4.368

0.908–21.021

0.066

HP:0001276 Hypertonia

0.392

0.061–2.499

0.2497

0.513

0.199–1.318

0.166

HP:0000750 Delayed speech and language development

0.519

0.142–1.890

0.2691

0.404

0.101–1.617

0.200

HP:0012758 Psychomotor delay

1.538

0.617–3.835

0.3243

1.772

0.698–4.498

0.229

HP:0009891 Underdeveloped supraorbital ridges

1.686

0.723–3.932

0.2918

2.614

0.547–12.508

0.229

HP:0009765 Low hanging columella

0.811

0.145–4.251

0.8034

0.221

0.017–2.886

0.249

HP:0001290 Generalized hypotonia

1.601

0.831–3.085

0.1999

1.612

0.706–3.679

0.257

HP:0000729 Autism spectrum disorder

0.420

0.143–1.240

0.0744

0.479

0.131–1.757

0.268

HP:0000957 CAL spot

0.811

0.145–4.251

0.8034

0.364

0.055–2.392

0.293

HP:0004322 Short stature

0.781

0.369–1.653

0.5041

0.706

0.303–1.643

0.419

HP:0040080 Anteverted ears

0.452

0.072–2.827

0.3338

0.560

0.058–5.450

0.618

HP:0000325 Triangular face

0.643

0.109–3.789

0.5982

0.759

0.206–2.802

0.680

HP:0001250 Seizures

1.222

0.690–2.164

0.4998

0.878

0.419–1.841

0.731

HP:0000767 Pectus excavatum

1.686

0.723–3.932

0.2918

1.177

0.459–3.012

0.734

HP:0000028 Cryptorchidism

1.667

0.603–4.609

0.3934

1.137

0.463–2.791

0.779

HP:0002376 Developmental regression

0.806

0.235–2.757

0.7203

0.891

0.367–2.162

0.799

HP:0000252 Microcephaly

0.822

0.435–1.551

0.5354

0.948

0.439–2.044

0.891

HP:0007429 Few CAL spots

0.929

0.279–3.090

0.9025

0.993

0.317–3.109

0.991

HP:0001513 Obesity

-

-

-

-

-

-

HP:0002463 Language disorder

-

-

-

-

-

-

HP:0100729 Large face

-

-

-

-

-

-

HP:0000506 Telecanthus

-

-

-

-

-

-

HP:0012471 Thick lips

-

-

-

-

-

-