|
1
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
23014386
|
IBIS
|
990 / 7739
|
|
2
|
(HPO:0001399)
|
Hepatic failure |
Very frequent [Orphanet]
Very frequent [IBIS]
|
|
23014386
|
IBIS
|
80 / 7739
|
|
3
|
(HPO:0001541)
|
Ascites |
Very frequent [Orphanet]
|
|
25155778
|
IBIS
|
94 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
20833045
|
IBIS
|
328 / 7739
|
|
5
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
23014386
|
IBIS
|
129 / 7739
|
|
6
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Very frequent [Orphanet]
|
|
25155778
|
IBIS
|
34 / 7739
|
|
7
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
17027861
|
IBIS
|
192 / 7739
|
|
8
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
25155778
|
IBIS
|
78 / 7739
|
|
9
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
17027861
|
IBIS
|
67 / 7739
|
|
10
|
(HPO:0001394)
|
Cirrhosis |
|
|
17027861
|
IBIS
|
102 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
17027861
|
IBIS
|
482 / 7739
|
|
12
|
(HPO:0001789)
|
Hydrops fetalis |
|
|
17027861
|
IBIS
|
63 / 7739
|
|
13
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
17027861
|
IBIS
|
281 / 7739
|
|
14
|
(HPO:0001649)
|
Tachycardia |
|
|
25155778
|
IBIS
|
53 / 7739
|
|
15
|
(HPO:0003270)
|
Abdominal distention |
|
|
25155778
|
IBIS
|
46 / 7739
|
|
16
|
(HPO:0030148)
|
Heart murmur |
|
|
25155778
|
IBIS
|
29 / 7739
|
|
17
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
23056054
|
IBIS
|
141 / 7739
|
|
18
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
23056054
|
IBIS
|
137 / 7739
|
|
19
|
(HPO:0001561)
|
Polyhydramnios |
|
|
20833045
|
IBIS
|
191 / 7739
|
|
20
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
20833045
|
IBIS
|
74 / 7739
|
|
21
|
(HPO:0100303)
|
Muscle fiber cytoplasmatic inclusion bodies |
|
|
20833045
|
IBIS
|
3 / 7739
|
|
22
|
(HPO:0003715)
|
Myofibrillar myopathy |
|
|
20833045
|
IBIS
|
9 / 7739
|
|
23
|
(HPO:0100314)
|
Cerebral inclusion bodies |
|
|
20833045
|
IBIS
|
2 / 7739
|
|
24
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
20833045
|
IBIS
|
75 / 7739
|
|
25
|
(HPO:0001371)
|
Flexion contracture |
|
|
20833045
|
IBIS
|
220 / 7739
|
|
26
|
(HPO:0001284)
|
Areflexia |
|
|
20833045
|
IBIS
|
198 / 7739
|
|
27
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
20833045
|
IBIS
|
93 / 7739
|
|
28
|
(HPO:0001637)
|
Abnormality of the myocardium |
|
|
20833045
|
IBIS
|
76 / 7739
|
|
29
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
20833045
|
IBIS
|
42 / 7739
|
|
30
|
(HPO:0001508)
|
Failure to thrive |
|
|
26385640
|
IBIS
|
454 / 7739
|
|
31
|
(HPO:0001409)
|
Portal hypertension |
|
|
23014386
|
IBIS
|
39 / 7739
|
|
32
|
(HPO:0001324)
|
Muscle weakness |
|
|
23014386
|
IBIS
|
859 / 7739
|
|
33
|
(HPO:0002878)
|
Respiratory failure |
|
|
23014386
|
IBIS
|
57 / 7739
|
|
34
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
23014386
|
IBIS
|
169 / 7739
|
|
35
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
23014386
|
IBIS
|
160 / 7739
|