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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