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Table 1 Clinical data of the 8 studied patients

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
  1. NA not available