Table 1.
Patients’ phenotypes (Human Phenotype Ontology nomenclature)
| Patient ID | P1:V5 | P1:V6 | P1:V7 | P1:V8 | P2:III1 | P2:III2 | P2:III7 | P2:IV1 |
|---|---|---|---|---|---|---|---|---|
| Patient age (years)/sex | 34/F | 28/M | 24/M | 17/M | 48/F | 47/F | 29/F | 10/M |
| Retinitis pigmentosa HP:0000580 | + | + | + | + | + | + | + | Suspected |
| Intellectual disability HP:0010864Ia | Moderate | Moderate | Moderate | Moderate | Severe | Severe | Severe | Moderate |
| Short stature HP:0004322 (height, cm OR percentile) | +(145) | +(157) | +(163) | +(155) | +(146) | +(149) | +(132) | Percentile 3–5% (129) |
| Weight (kg) | 78 | 78 | 98 | 92 | 86.6 | 62 | 57.8 | 29.5 (percentile 25–50%) |
| Obesity HP:0001513 (calculated BMI kg/m2) | +(37.1) | +(31.6) | +(36.9) | +(38.3) | +(40.6) | -Overweight (27.9) | +(33.2) | BMI-for-age at the 68th percentileb |
| Genu Valgum HP:0002857/Genu Varum HP:0002970 | + | + | + | + | ? | + | ? | + |
| Speech Delay HP:0002167 | + | + | + | + | + | + | + | + |
| Brachydactyly HP:0001156 | + | + | + | + | + | + | + | + |
aA formal IQ test could not be done due to low compliance. We have estimated the level of ID based on basic daily skills and the intensity of support needed either observed or when not available for clinical appreciation-based on medical records (as DSM V assesses the level of severity based on adaptive functioning and not IQ score)
bAccording to the Centers for Disease Control and Prevention (CDC)—BMI percentile calculator for child and teen