Table 2 Clinical phenotypes of the cohort.
Affected individuals | Total |
|---|---|
Families | 31 |
Affected children | 31 |
Consanguineous | 0 |
PICU enrollments | 31 |
Encephalopathy | 6 |
Global developmental delay | 17 |
Dystonia | 1 |
Intellectual disability | 4 |
Intrauterine growth retardation | 3 |
Morphological abnormality of the central nervous system | 9 |
Muscle weakness | 7 |
Developmental regression | 4 |
Seizures | 13 |
Failure to thrive | 9 |
Muscular hypotonia | 13 |
Skin rash | 5 |
Abnormality of metabolism/homeostasis | 9 |
Easy fatigability | 4 |
Feeding difficulties | 8 |
Abnormality of the liver | 7 |
Abnormality of the kidney | 2 |
Apnea | 12 |
Dyspnea | 5 |
Respiratory failure | 14 |
