|
1
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
Frequent [IBIS]
|
75% (n=28)
|
26067541
|
IBIS
|
214 / 7739
|
|
2
|
(HPO:0003198)
|
Myopathy |
Frequent [Orphanet]
Frequent [IBIS]
|
61% (n=28)
|
26067541
|
IBIS
|
151 / 7739
|
|
3
|
(HPO:0001712)
|
Left ventricular hypertrophy |
Occasional [IBIS]
|
32% (n=28)
|
26067541
|
IBIS
|
76 / 7739
|
|
4
|
(HPO:0011703)
|
Sinus tachycardia |
Occasional [IBIS]
|
29% (n=28)
|
26067541
|
IBIS
|
5 / 7739
|
|
5
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
20648714
|
IBIS
|
1232 / 7739
|
|
6
|
(HPO:0000293)
|
Full cheeks |
Very frequent [Orphanet]
|
|
12002141
|
IBIS
|
85 / 7739
|
|
7
|
(HPO:0003077)
|
Hyperlipidemia |
|
|
24997454
|
IBIS
|
37 / 7739
|
|
8
|
(HPO:0001943)
|
Hypoglycemia |
Very frequent [Orphanet]
|
|
17027861
|
IBIS
|
131 / 7739
|
|
9
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
12002141
|
IBIS
|
112 / 7739
|
|
10
|
(HPO:0000233)
|
Thin vermilion border |
|
|
12002141
|
IBIS
|
124 / 7739
|
|
11
|
(HPO:0000455)
|
Broad nasal tip |
|
|
12002141
|
IBIS
|
67 / 7739
|
|
12
|
(HPO:0000490)
|
Deeply set eye |
|
|
12002141
|
IBIS
|
131 / 7739
|
|
13
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
17027861
|
IBIS
|
990 / 7739
|
|
14
|
(HPO:0001324)
|
Muscle weakness |
|
|
26067541
|
IBIS
|
859 / 7739
|
|
15
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
1293383
|
IBIS
|
67 / 7739
|
|
16
|
(HPO:0001638)
|
Cardiomyopathy |
|
|
26067541
|
IBIS
|
192 / 7739
|
|
17
|
(HPO:0001714)
|
Ventricular hypertrophy |
|
|
26067541
|
IBIS
|
20 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
17027861
|
IBIS
|
467 / 7739
|
|
19
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
12002141
|
IBIS
|
158 / 7739
|
|
20
|
(HPO:0003119)
|
Abnormality of lipid metabolism |
Very frequent [Orphanet]
|
|
24997454
|
IBIS
|
60 / 7739
|
|
21
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
26067541
|
IBIS
|
118 / 7739
|
|
22
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
12002141
|
IBIS
|
381 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
|
|
12002141
|
IBIS
|
221 / 7739
|
|
24
|
(HPO:0001510)
|
Growth delay |
|
|
26067541
|
IBIS
|
295 / 7739
|
|
25
|
(OMIM)
|
Broad upturned nasal tip |
|
|
12002141
|
IBIS
|
1 / 7739
|
|
26
|
(OMIM)
|
Bow-shaped lips |
|
|
12002141
|
IBIS
|
1 / 7739
|
|
27
|
(OMIM)
|
Amylo-1,6-glucosidase deficiency |
|
|
17027861
|
IBIS
|
1 / 7739
|
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
26067541
|
IBIS
|
949 / 7739
|
|
29
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
20648714
|
IBIS
|
34 / 7739
|
|
30
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
17027861
|
IBIS
|
78 / 7739
|
|
31
|
(HPO:0003128)
|
Lactic acidosis |
|
|
17027861
|
IBIS
|
116 / 7739
|
|
32
|
(HPO:0001640)
|
Cardiomegaly |
|
|
17027861
|
IBIS
|
81 / 7739
|
|
33
|
(HPO:0003750)
|
Increased muscle fatiguability |
|
|
26067541
|
IBIS
|
8 / 7739
|
|
34
|
(HPO:0003546)
|
Exercise intolerance |
|
|
26067541
|
IBIS
|
62 / 7739
|
|
35
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
26067541
|
IBIS
|
62 / 7739
|
|
36
|
(HPO:0001270)
|
Motor delay |
|
|
26067541
|
IBIS
|
322 / 7739
|
|
37
|
(HPO:0002155)
|
Hypertriglyceridemia |
|
|
24997454
|
IBIS
|
67 / 7739
|