Table 1.
Clinical phenotype
| Number of patients | ||
|---|---|---|
| Clinical finding | N | % |
| Birth history | ||
| Premature birth | 3 | 43 |
| Placental abnormalities | 5 | 71 |
| Physical characteristics | ||
| Deep-set eyes | 7 | 100 |
| Central nervous system | ||
| Microcephaly | 7 | 100 |
| Bilateral sensorineural hearing loss | 7 | 100 |
| Nystagmus | 6 | 86 |
| Gross motor delay | 7 | 100 |
| Expressive language delay | 7 | 100 |
| Cardiopulmonary | ||
| Chronic pulmonary disease | 2 | 29 |
| Ventricular septal defect | 1 | 14 |
| Gastrointestinal | ||
| Poor growth | 7 | 100 |
| Nasogastric or gastrostomy feedings | 7 | 100 |
| Cholestatic liver disease | 7 | 100 |
| Pancreatic insufficiency | 7 | 100 |
| Hematology | ||
| Transfusion dependent anemia | 3 | 43 |
| Renal | ||
| Intermittent proteinuria +/− hematuria | 4 | 57 |
| Endocrine | ||
| Severe hypoglycemia | 5 | 71 |
| Infectious disease | ||
| Frequent bloodstream infections | 3 | 43 |
Summary of clinical findings in seven YARS c.499C > A, p.Pro167Thr homozygotes.