|
1
|
(HPO:0000193)
|
Bifid uvula |
Frequent [IBIS]
|
84% (n=19)
|
24499211
|
IBIS
|
66 / 7739
|
|
2
|
(HPO:0000175)
|
Cleft palate |
|
|
24997537
|
IBIS
|
349 / 7739
|
|
3
|
(HPO:0000201)
|
Pierre-Robin sequence |
|
|
24997537
|
IBIS
|
20 / 7739
|
|
4
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
26303607
|
IBIS
|
141 / 7739
|
|
5
|
(HPO:0001649)
|
Tachycardia |
|
|
22492991
|
IBIS
|
53 / 7739
|
|
6
|
(HPO:0001976)
|
Reduced antithrombin III activity |
|
|
24997537
|
IBIS
|
10 / 7739
|
|
7
|
(HPO:0002094)
|
Dyspnea |
|
|
22492991
|
IBIS
|
132 / 7739
|
|
8
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
26303607
|
IBIS
|
158 / 7739
|
|
9
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
24997537
|
IBIS
|
214 / 7739
|
|
10
|
(HPO:0003642)
|
Type I transferrin isoform profile |
|
|
26307094
|
IBIS
|
16 / 7739
|
|
11
|
(HPO:0005305)
|
Cerebral venous thrombosis |
|
|
22492991
|
IBIS
|
7 / 7739
|
|
12
|
(HPO:0012378)
|
Fatigue |
|
|
22492991
|
IBIS
|
50 / 7739
|
|
13
|
(HPO:0200123)
|
Chronic hepatitis |
|
|
22492991
|
IBIS
|
4 / 7739
|
|
14
|
(OMIM)
|
Some increase in monosialo- and trisialotransferrin (type 1/2 pattern) |
|
|
22492991
|
IBIS
|
1 / 7739
|
|
15
|
(HPO:0004322)
|
Short stature |
|
|
26303607
|
IBIS
|
1232 / 7739
|
|
16
|
(HPO:0000821)
|
Hypothyroidism |
|
|
26303607
|
IBIS
|
141 / 7739
|
|
17
|
(HPO:0009020)
|
Exercise-induced muscle fatigue |
|
|
26303607
|
IBIS
|
4 / 7739
|
|
18
|
(HPO:0100749)
|
Chest pain |
|
|
26303607
|
IBIS
|
92 / 7739
|
|
19
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
26303607
|
IBIS
|
27 / 7739
|
|
20
|
(HPO:0012301)
|
Type II transferrin isoform profile |
|
|
26307094
|
IBIS
|
6 / 7739
|
|
21
|
(HPO:0001943)
|
Hypoglycemia |
|
|
24997537
|
IBIS
|
131 / 7739
|
|
22
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
24997537
|
IBIS
|
19 / 7739
|
|
23
|
(HPO:0009051)
|
Increased muscle glycogen content |
|
|
24997537
|
IBIS
|
8 / 7739
|
|
24
|
(HPO:0012240)
|
Increased intramyocellular lipid droplets |
|
|
24997537
|
IBIS
|
7 / 7739
|
|
25
|
(HPO:0000044)
|
Hypogonadotrophic hypogonadism |
|
|
24997537
|
IBIS
|
56 / 7739
|
|
26
|
(HPO:0001510)
|
Growth delay |
|
|
24997537
|
IBIS
|
295 / 7739
|
|
27
|
(HPO:0000825)
|
Hyperinsulinemic hypoglycemia |
|
|
24997537
|
IBIS
|
18 / 7739
|
|
28
|
(HPO:0012346)
|
Abnormal protein glycosylation |
|
|
24997537
|
IBIS
|
1 / 7739
|
|
29
|
(HPO:0002047)
|
Malignant hyperthermia |
|
|
24499211
|
IBIS
|
20 / 7739
|
|
30
|
(HPO:0001695)
|
Cardiac arrest |
|
|
24499211
|
IBIS
|
87 / 7739
|
|
31
|
(HPO:0030353)
|
Decreased serum insulin-like growth factor 1 |
|
|
24499211
|
IBIS
|
2 / 7739
|
|
32
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
24878975
|
IBIS
|
141 / 7739
|
|
33
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
22976764
|
IBIS
|
169 / 7739
|
|
34
|
(HPO:0011220)
|
Prominent forehead |
|
|
26043514
|
IBIS
|
137 / 7739
|
|
35
|
(HPO:0000274)
|
Small face |
|
|
26043514
|
IBIS
|
18 / 7739
|