Table 1 Clinic of siblings
Patient 1 | Patient 2 | |
|---|---|---|
Age of onset | 4 months | 10 months |
Age of death | 7 years | 11 years |
Cause of death | ||
Respiratory failure | + | + |
Main symptons | ||
Severe Hypotonia | + | + |
Global developmental delay | + | + |
Intellectual disability | + | + |
Generalized onset seizures | + | + |
Reduced visual acuity | – | + |
Blindness | + | – |
Appearance | ||
Undersize | + | + |
Underweight | – | + |
Short neck | + | + |
Facial dysmorphia | + | + |
Open mouth | + | + |
Tented upper lip | + | + |
Macroglossia | + | + |
Furrowed tongue | + | + |
Unilateral esotropia | + | + |