1
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
23398819
|
IBIS
|
47 / 7739
|
2
|
(HPO:0001875)
|
Neutropenia |
rare [HPO:skoehler]
|
|
23398819
|
IBIS
|
83 / 7739
|
3
|
(HPO:0001706)
|
Endocardial fibroelastosis |
|
|
23398819
|
IBIS
|
20 / 7739
|
4
|
(HPO:0004306)
|
Abnormality of the endocardium |
Frequent [Orphanet]
|
|
23398819
|
IBIS
|
24 / 7739
|
5
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
23398819
|
IBIS
|
137 / 7739
|
6
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
23398819
|
IBIS
|
141 / 7739
|
7
|
(HPO:0000293)
|
Full cheeks |
|
|
23398819
|
IBIS
|
85 / 7739
|
8
|
(HPO:0000311)
|
Round face |
|
|
23398819
|
IBIS
|
104 / 7739
|
9
|
(HPO:0000490)
|
Deeply set eye |
|
|
23398819
|
IBIS
|
131 / 7739
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
23398819
|
IBIS
|
322 / 7739
|
11
|
(HPO:0001508)
|
Failure to thrive |
|
|
23398819
|
IBIS
|
454 / 7739
|
12
|
(HPO:0001510)
|
Growth delay |
|
|
23409742
|
IBIS
|
295 / 7739
|
13
|
(HPO:0001635)
|
Congestive heart failure |
|
|
23398819
|
IBIS
|
232 / 7739
|
14
|
(HPO:0001913)
|
Granulocytopenia |
|
|
10904833
|
IBIS
|
5 / 7739
|
15
|
(HPO:0002058)
|
Myopathic facies |
|
|
8042670
|
IBIS
|
26 / 7739
|
16
|
(HPO:0003546)
|
Exercise intolerance |
|
|
26845103
|
IBIS
|
62 / 7739
|
17
|
(HPO:0003756)
|
Skeletal myopathy |
|
|
23398819
|
IBIS
|
8 / 7739
|
18
|
(HPO:0005437)
|
Recurrent infections in infancy and early childhood |
|
|
23398819
|
IBIS
|
2 / 7739
|
19
|
(HPO:0008322)
|
Abnormal mitochondrial morphology |
|
|
23398819
|
IBIS
|
8 / 7739
|
20
|
(HPO:0011675)
|
Arrhythmia |
|
|
23398819
|
IBIS
|
226 / 7739
|
21
|
(HPO:0012378)
|
Fatigue |
|
|
23398819
|
IBIS
|
50 / 7739
|
22
|
(OMIM)
|
Tall, broad forehead |
|
|
23398819
|
IBIS
|
3 / 7739
|
23
|
(OMIM)
|
Noncompaction of left ventricle |
|
|
23398819
|
IBIS
|
1 / 7739
|
24
|
(OMIM)
|
Ultrastructural abnormalities in mitochondria on electron microscopy |
|
|
23398819
|
IBIS
|
1 / 7739
|
25
|
(OMIM)
|
Nasal quality to speech |
|
|
8042670
|
IBIS
|
1 / 7739
|
26
|
(HPO:0001638)
|
Cardiomyopathy |
Very frequent [Orphanet]
|
|
23398819
|
IBIS
|
192 / 7739
|
27
|
(HPO:0003535)
|
3-Methylglutaconic aciduria |
|
|
23398819
|
IBIS
|
10 / 7739
|
28
|
(HPO:0004308)
|
Ventricular arrhythmia |
|
|
23398819
|
IBIS
|
46 / 7739
|
29
|
(HPO:0001645)
|
Sudden cardiac death |
|
|
23398819
|
IBIS
|
84 / 7739
|
30
|
(HPO:0005184)
|
Prolonged QTc interval |
|
|
23398819
|
IBIS
|
5 / 7739
|
31
|
(HPO:0001263)
|
Global developmental delay |
|
|
23398819
|
IBIS
|
853 / 7739
|
32
|
(HPO:0003198)
|
Myopathy |
|
|
23398819
|
IBIS
|
151 / 7739
|
33
|
(HPO:0001254)
|
Lethargy |
|
|
23398819
|
IBIS
|
104 / 7739
|
34
|
(HPO:0012311)
|
Monocytosis |
|
|
23398819
|
IBIS
|
10 / 7739
|
35
|
(HPO:0002718)
|
Recurrent bacterial infections |
|
|
23398819
|
IBIS
|
75 / 7739
|
36
|
(HPO:0001943)
|
Hypoglycemia |
|
|
23398819
|
IBIS
|
131 / 7739
|
37
|
(HPO:0003128)
|
Lactic acidosis |
|
|
23398819
|
IBIS
|
116 / 7739
|
38
|
(HPO:0000823)
|
Delayed puberty |
|
|
23398819
|
IBIS
|
65 / 7739
|
39
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
23398819
|
IBIS
|
153 / 7739
|
40
|
(HPO:0002014)
|
Diarrhea |
|
|
23398819
|
IBIS
|
225 / 7739
|
41
|
(OMIM)
|
Round face in infancy |
|
|
23398819
|
IBIS
|
2 / 7739
|
42
|
(HPO:0000411)
|
Protruding ear |
|
|
23398819
|
IBIS
|
140 / 7739
|
43
|
(HPO:0012103)
|
Abnormality of the mitochondrion |
|
|
23398819
|
IBIS
|
7 / 7739
|
44
|
(HPO:0001992)
|
Organic aciduria |
|
|
23398819
|
IBIS
|
28 / 7739
|
45
|
(HPO:0003826)
|
Stillbirth |
|
|
23398819
|
IBIS
|
40 / 7739
|
46
|
(HPO:0005268)
|
Spontaneous abortion |
|
|
23409742
|
IBIS
|
15 / 7739
|
47
|
(HPO:0030682)
|
Left ventricular noncompaction |
|
|
23398819
|
IBIS
|
4 / 7739
|
48
|
(HPO:0003737)
|
Mitochondrial myopathy |
|
|
23398819
|
IBIS
|
18 / 7739
|
49
|
(HPO:0003388)
|
Easy fatigability |
|
|
23398819
|
IBIS
|
34 / 7739
|
50
|
(HPO:0001328)
|
Specific learning disability |
|
|
23398819
|
IBIS
|
114 / 7739
|
51
|
(HPO:0001297)
|
Stroke |
|
|
23398819
|
IBIS
|
44 / 7739
|
52
|
(HPO:0011107)
|
Recurrent aphthous stomatitis |
|
|
23398819
|
IBIS
|
13 / 7739
|
53
|
(HPO:0000964)
|
Eczema |
|
|
23398819
|
IBIS
|
81 / 7739
|
54
|
(HPO:0100806)
|
Sepsis |
|
|
23398819
|
IBIS
|
48 / 7739
|
55
|
(HPO:0003146)
|
Hypocholesterolemia |
|
|
23398819
|
IBIS
|
9 / 7739
|
56
|
(HPO:0000938)
|
Osteopenia |
|
|
23398819
|
IBIS
|
138 / 7739
|
57
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
23398819
|
IBIS
|
63 / 7739
|
58
|
(HPO:0040014)
|
Increased mitochondrial number |
|
|
23398819
|
IBIS
|
3 / 7739
|
59
|
(HPO:0012087)
|
Abnormal mitochondrial shape |
|
|
23398819
|
IBIS
|
8 / 7739
|
60
|
(HPO:0003287)
|
Abnormality of mitochondrial metabolism |
|
|
23409742
|
IBIS
|
12 / 7739
|