Table 3 Genotype, age of onset of symptoms, and current disease phenotypes of GD3 patients
From: Changing clinical manifestations of Gaucher disease in Taiwan
ID | Genotype | Age of onset of symptoms | Oculomotor apraxia | Seizure | Intellectual disability | Lymphadenopathy | Kyphosis |
|---|---|---|---|---|---|---|---|
1 | p.Leu483Pro/p.Leu483Pro | 2.42 |  +  |  +  | – |  +  |  +  |
2 | p.Leu483Pro/p.Leu483Pro | 9.50 |  +  |  +  | – | – | – |
3 | p.Leu483Pro/p.Leu483Pro | 2.62 | – | – | – |  +  | – |
4 | p.Leu483Pro/p.Leu483Pro | 0.88 | – | – | – |  +  |  +  |
5 | p.Leu483Pro/p.Leu483Pro | 1.18 |  +  |  +  |  +  |  +  |  +  |
6 | p.Leu483Pro/p.Leu483Pro | 1.83 | – | – | – |  +  |  +  |
7 | p.Leu483Pro/p.Leu483Pro | 3.50 |  +  | – | – |  +  | – |
8 | p.Leu483Pro/p.Leu483Pro | 1.23 |  +  |  +  | – |  +  | – |
9 | p.Leu483Pro/p.Leu483Pro | 2.00 | – | – |  +  | – |  +  |
10 | p.Leu483Pro/p.Leu483Pro | 18 |  +  | – | – | – | – |
11 | p.Leu483Pro/p.Leu483Pro | 2 |  +  | – | – | – |  +  |
12 | p.Leu483Pro/p.Asp448His | 31.7 |  +  | – | – | – | – |
13 | p.Leu483Pro/p.Asp448His | 6.29 |  +  | – | – | – |  +  |
14 | p.Leu483Pro/RecNciI†| 0.10 |  +  | – |  +  | – | – |