From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Patient | Consanguinity | Short stature | Milestones | Coarse facies | Cardio-pulmonary complications | Gingival hypertrophy | E.M. Findings |
---|---|---|---|---|---|---|---|
1 | + | + | Delayed | + | + | + | ML |
2 | + | + | Delayed | + | + | NA | NA |
3 | + | + | Delayed | + | + | + | ML |
4 | + | + | Delayed | + | + | + | ML |
5 | + | NA | Delayed | + | NA | + | ML |
6 | + | + | Delayed | + | − | + | ML |
7 | + | + | Delayed | + | + | + | ML |
8 | + | NA | Delayed | + | + | + | ML |