|
1
|
(HPO:0002092)
|
Pulmonary hypertension |
Very frequent [IBIS]
|
|
21255763
|
IBIS
|
109 / 7739
|
|
2
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [IBIS]
|
|
21255763
|
IBIS
|
37 / 7739
|
|
3
|
(HPO:0000083)
|
Renal insufficiency |
Very frequent [IBIS]
|
|
21255763
|
IBIS
|
232 / 7739
|
|
4
|
(HPO:0001948)
|
Alkalosis |
Very frequent [IBIS]
|
|
21255763
|
IBIS
|
4 / 7739
|
|
5
|
(HPO:0000093)
|
Proteinuria |
|
|
21255763
|
IBIS
|
169 / 7739
|
|
6
|
(HPO:0000103)
|
Polyuria |
|
|
21255763
|
IBIS
|
60 / 7739
|
|
7
|
(HPO:0000127)
|
Renal salt wasting |
|
|
21255763
|
IBIS
|
21 / 7739
|
|
8
|
(HPO:0000819)
|
Diabetes mellitus |
|
|
21255763
|
IBIS
|
131 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
21255763
|
IBIS
|
454 / 7739
|
|
10
|
(HPO:0001622)
|
Premature birth |
|
|
21255763
|
IBIS
|
100 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
21255763
|
IBIS
|
224 / 7739
|
|
12
|
(HPO:0001882)
|
Leukopenia |
|
|
21255763
|
IBIS
|
51 / 7739
|
|
13
|
(HPO:0001903)
|
Anemia |
|
|
21255763
|
IBIS
|
289 / 7739
|
|
14
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
21255763
|
IBIS
|
410 / 7739
|
|
15
|
(HPO:0002902)
|
Hyponatremia |
|
|
21255763
|
IBIS
|
37 / 7739
|
|
16
|
(HPO:0002917)
|
Hypomagnesemia |
|
|
21255763
|
IBIS
|
19 / 7739
|
|
17
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
21255763
|
IBIS
|
14 / 7739
|
|
18
|
(HPO:0004719)
|
Hyperechogenic kidneys |
|
|
21255763
|
IBIS
|
10 / 7739
|
|
19
|
(HPO:0005977)
|
Hypochloremic metabolic alkalosis |
|
|
21255763
|
IBIS
|
2 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
21255763
|
IBIS
|
240 / 7739
|
|
21
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
21255763
|
IBIS
|
32 / 7739
|
|
22
|
(OMIM)
|
Denuded tubules |
|
|
21255763
|
IBIS
|
1 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
21255763
|
IBIS
|
990 / 7739
|
|
24
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
21255763
|
IBIS
|
482 / 7739
|
|
25
|
(HPO:0002878)
|
Respiratory failure |
|
|
21255763
|
IBIS
|
57 / 7739
|
|
26
|
(HPO:0001263)
|
Global developmental delay |
|
|
21255763
|
IBIS
|
853 / 7739
|
|
27
|
(HPO:0001522)
|
Death in infancy |
|
|
21255763
|
IBIS
|
275 / 7739
|
|
28
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
21255763
|
IBIS
|
73 / 7739
|
|
29
|
(HPO:0003688)
|
Decreased activity of cytochrome C oxidase in muscle tissue |
|
|
21255763
|
IBIS
|
20 / 7739
|
|
30
|
(HPO:0000091)
|
Abnormality of the renal tubule |
|
|
21255763
|
IBIS
|
15 / 7739
|
|
31
|
(HPO:0011923)
|
Decreased activity of mitochondrial complex I |
|
|
21255763
|
IBIS
|
35 / 7739
|
|
32
|
(HPO:0011924)
|
Decreased activity of mitochondrial complex III |
|
|
21255763
|
IBIS
|
22 / 7739
|
|
33
|
(HPO:0008347)
|
Decreased activity of mitochondrial complex IV |
|
|
21255763
|
IBIS
|
31 / 7739
|
|
34
|
(HPO:0002151)
|
Increased serum lactate |
|
|
21255763
|
IBIS
|
92 / 7739
|
|
35
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
21255763
|
IBIS
|
28 / 7739
|
|
36
|
(HPO:0008322)
|
Abnormal mitochondrial morphology |
|
|
21255763
|
IBIS
|
8 / 7739
|
|
37
|
(HPO:0012610)
|
Abnormality of urinary uric acid concentration |
|
|
21255763
|
IBIS
|
1 / 7739
|
|
38
|
(HPO:0001876)
|
Pancytopenia |
|
|
21255763
|
IBIS
|
89 / 7739
|
|
39
|
(HPO:0003074)
|
Hyperglycemia |
|
|
21255763
|
IBIS
|
37 / 7739
|
|
40
|
(HPO:0001667)
|
Right ventricular hypertrophy |
|
|
21255763
|
IBIS
|
23 / 7739
|
|
41
|
(HPO:0002013)
|
Vomiting |
|
|
21255763
|
IBIS
|
191 / 7739
|
|
42
|
(HPO:0000816)
|
Abnormality of Krebs cycle metabolism |
|
|
21255763
|
IBIS
|
3 / 7739
|
|
43
|
(HPO:0001992)
|
Organic aciduria |
|
|
21255763
|
IBIS
|
28 / 7739
|