|
1
|
(HPO:0000938)
|
Osteopenia |
|
|
17919309
|
IBIS
|
138 / 7739
|
|
2
|
(HPO:0001336)
|
Myoclonus |
|
|
2615292
|
IBIS
|
115 / 7739
|
|
3
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
2615292; 17919309
|
IBIS
|
78 / 7739
|
|
4
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
17919309
|
IBIS
|
224 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
|
|
17919309
|
IBIS
|
289 / 7739
|
|
6
|
(HPO:0004975)
|
Erlenmeyer flask deformity of the femurs |
|
|
17919309
|
IBIS
|
8 / 7739
|
|
7
|
(HPO:0007185)
|
Loss of consciousness |
|
|
2615292
|
IBIS
|
9 / 7739
|
|
8
|
(HPO:0002197)
|
Generalized seizures |
|
|
2615292
|
IBIS
|
30 / 7739
|
|
9
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
2615292
|
IBIS
|
56 / 7739
|
|
10
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
2615292
|
IBIS
|
116 / 7739
|
|
11
|
(HPO:0001317)
|
Abnormality of the cerebellum |
|
|
2615292
|
IBIS
|
36 / 7739
|
|
12
|
(HPO:0003148)
|
Elevated serum acid phosphatase |
|
|
2615292
|
IBIS
|
7 / 7739
|
|
13
|
(OMIM)
|
Gaucher cells in bone marrow |
|
|
2615292; 17919309
|
IBIS
|
5 / 7739
|
|
14
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
2615292
|
IBIS
|
141 / 7739
|
|
15
|
(HPO:0001251)
|
Ataxia |
|
|
2615292
|
IBIS
|
413 / 7739
|
|
16
|
(HPO:0001337)
|
Tremor |
|
|
2615292
|
IBIS
|
200 / 7739
|
|
17
|
(HPO:0001260)
|
Dysarthria |
|
|
2615292
|
IBIS
|
329 / 7739
|
|
18
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
2615292
|
IBIS
|
29 / 7739
|
|
19
|
(HPO:0004326)
|
Cachexia |
|
|
17919309
|
IBIS
|
71 / 7739
|
|
20
|
(HPO:0001971)
|
Hypersplenism |
|
|
17919309
|
IBIS
|
8 / 7739
|
|
21
|
(HPO:0012378)
|
Fatigue |
|
|
17919309
|
IBIS
|
50 / 7739
|
|
22
|
(HPO:0002653)
|
Bone pain |
|
|
17919309
|
IBIS
|
75 / 7739
|