|
1
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
2
|
(HPO:0000737)
|
Irritability |
|
|
|
|
93 / 7739
|
|
3
|
(HPO:0000825)
|
Hyperinsulinemic hypoglycemia |
|
|
|
|
18 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
6
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
7
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
9
|
(HPO:0001943)
|
Hypoglycemia |
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0002329)
|
Drowsiness |
|
|
|
|
19 / 7739
|
|
11
|
(OMIM)
|
High birth weight |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Strabismus, alternating (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Islet cell hyperplasia |
|
|
|
|
2 / 7739
|
|
14
|
(HPO:0002173)
|
Hypoglycemic seizures |
|
|
|
|
19 / 7739
|
|
15
|
(OMIM)
|
Hypotonicity |
|
|
|
|
2 / 7739
|
|
16
|
(MedDRA:10041953)
|
Staring |
|
|
|
|
5 / 7739
|
|
17
|
(OMIM)
|
Transient ataxia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hypoglycemia, leucine-induced |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Hypoglycemia, oral protein-induced |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Intermittent severe hypoglycemia (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|