Table 1.
Characteristics of the patients.
| Characteristics | N (%) |
|---|---|
| Age at analysis, years, median (range) | 5 (0–38) |
| Sex, n (%) | |
| Male | 31 (53%) |
| Female | 27 (47%) |
| Major symptoms (HPO*), n | |
| Global developmental delay (HP:0001263) | 19 (33%) |
| Seizures (HP:0001250) | 10 (17%) |
| Intellectual disability (HP:0001249) | 11 (19%) |
| Muscular hypotonia (HP:0001252) | 13 (22%) |
| Dysmorphic facial features (HP:0001999) | 19 (33%) |
| Short stature (HP:0004322) | 11 (19%) |
| Microcephaly (HP:0000252) | 7 (12%) |
| Macrocephaly (HP:0000256) | 3 (5%) |
| Hepatomegaly (HP:0002240) | 7 (12%) |
| Failure to thrive (HP:0001508) | 13 (22%) |
| Abnormality of metabolism/homeostasis (HP:0001939) | 29 (49%) |
| Abnormality of the eye (HP:0000478) | 7 (12%) |
| Others (congenital malformation syndromes, other neuromuscular symptoms, abnormal behavior) | 34 (59%) |
*HPO, human phenotype ontology, one patient can have more than one phenotype