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 | - | - | - | - | - | - |