|
1
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
|
100% (n=14)
|
26913920
|
IBIS
|
50 / 7739
|
|
2
|
(HPO:0002919)
|
Ketonuria |
Very frequent [IBIS]
|
100% (n=14)
|
26913920
|
IBIS
|
18 / 7739
|
|
3
|
(HPO:0002151)
|
Increased serum lactate |
Very frequent [IBIS]
|
100% (n=14)
|
26913920
|
IBIS
|
92 / 7739
|
|
4
|
(HPO:0001298)
|
Encephalopathy |
Very frequent [IBIS]
|
|
24530203
|
IBIS
|
72 / 7739
|
|
5
|
(HPO:0001254)
|
Lethargy |
|
|
24530203
|
IBIS
|
104 / 7739
|
|
6
|
(HPO:0001824)
|
Weight loss |
|
|
24530203
|
IBIS
|
42 / 7739
|
|
7
|
(HPO:0001943)
|
Hypoglycemia |
|
|
24530203
|
IBIS
|
131 / 7739
|
|
8
|
(HPO:0001950)
|
Respiratory alkalosis |
|
|
24530203
|
IBIS
|
7 / 7739
|
|
9
|
(HPO:0003228)
|
Hypernatremia |
|
|
24530203
|
IBIS
|
12 / 7739
|
|
10
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
24530203
|
IBIS
|
81 / 7739
|
|
11
|
(HPO:0000952)
|
Jaundice |
|
|
24530203
|
IBIS
|
105 / 7739
|
|
12
|
(HPO:0002789)
|
Tachypnea |
|
|
24530203
|
IBIS
|
48 / 7739
|
|
13
|
(HPO:0003217)
|
Hyperglutaminemia |
|
|
24530203
|
IBIS
|
9 / 7739
|
|
14
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
24530203
|
IBIS
|
19 / 7739
|
|
15
|
(HPO:0008358)
|
Hyperprolinemia |
|
|
24530203
|
IBIS
|
5 / 7739
|
|
16
|
(HPO:0003572)
|
Low plasma citrulline |
|
|
24530203
|
IBIS
|
7 / 7739
|
|
17
|
(HPO:0005961)
|
Hypoargininemia |
|
|
24530203
|
IBIS
|
7 / 7739
|
|
18
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
24530203
|
IBIS
|
77 / 7739
|
|
19
|
(HPO:0001671)
|
Abnormality of the cardiac septa |
|
|
24530203
|
IBIS
|
55 / 7739
|
|
20
|
(HPO:0011443)
|
Abnormality of coordination |
|
|
24530203
|
IBIS
|
1 / 7739
|
|
21
|
(HPO:0002013)
|
Vomiting |
|
|
24530203
|
IBIS
|
191 / 7739
|