|
1
|
(MedDRA:10058298)
|
Argininosuccinate synthetase deficiency |
Very frequent [IBIS]
|
|
18473344; 24508627
|
IBIS
|
2 / 7739
|
|
2
|
(HPO:0011966)
|
Elevated plasma citrulline |
Very frequent [IBIS]
|
|
24889030
|
IBIS
|
5 / 7739
|
|
3
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [IBIS]
|
35% (n=20)
|
23246278
|
IBIS
|
50 / 7739
|
|
4
|
(HPO:0001410)
|
Decreased liver function |
Frequent [IBIS]
|
25% (n=20)
|
23246278
|
IBIS
|
59 / 7739
|
|
5
|
(HPO:0001254)
|
Lethargy |
Frequent [IBIS]
|
|
24889030
|
IBIS
|
104 / 7739
|
|
6
|
(HPO:0001950)
|
Respiratory alkalosis |
Frequent [IBIS]
|
|
12403252
|
IBIS
|
7 / 7739
|
|
7
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
|
24222285
|
IBIS
|
191 / 7739
|
|
8
|
(HPO:0001298)
|
Encephalopathy |
Frequent [IBIS]
|
|
24508627
|
IBIS
|
72 / 7739
|
|
9
|
(HPO:0001297)
|
Stroke |
Occasional [IBIS]
|
10% (n=20)
|
23246278
|
IBIS
|
44 / 7739
|
|
10
|
(HPO:0001394)
|
Cirrhosis |
Occasional [IBIS]
|
|
15334737
|
IBIS
|
102 / 7739
|
|
11
|
(HPO:0100247)
|
Recurrent singultus |
Occasional [IBIS]
|
|
15902549
|
IBIS
|
7 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
20724589; 18473344
|
IBIS
|
1089 / 7739
|
|
13
|
(HPO:0001263)
|
Global developmental delay |
|
|
15902549
|
IBIS
|
853 / 7739
|
|
14
|
(HPO:0001270)
|
Motor delay |
|
|
2605319
|
IBIS
|
322 / 7739
|
|
15
|
(HPO:0001250)
|
Seizures |
|
|
24222285
|
IBIS
|
1245 / 7739
|
|
16
|
(HPO:0001259)
|
Coma |
|
|
24889030
|
IBIS
|
65 / 7739
|
|
17
|
(HPO:0001508)
|
Failure to thrive |
|
|
24508627
|
IBIS
|
454 / 7739
|
|
18
|
(HPO:0001510)
|
Growth delay |
|
|
24508627
|
IBIS
|
295 / 7739
|
|
19
|
(HPO:0001951)
|
Episodic ammonia intoxication |
|
|
23246278
|
IBIS
|
4 / 7739
|
|
20
|
(HPO:0002181)
|
Cerebral edema |
|
|
14729525
|
IBIS
|
19 / 7739
|
|
21
|
(HPO:0002240)
|
Hepatomegaly |
|
|
15334737
|
IBIS
|
467 / 7739
|
|
22
|
(HPO:0003217)
|
Hyperglutaminemia |
|
|
24765495
|
IBIS
|
9 / 7739
|
|
23
|
(HPO:0003218)
|
Oroticaciduria |
|
|
18473344
|
IBIS
|
10 / 7739
|
|
24
|
(HPO:0005961)
|
Hypoargininemia |
|
|
18473344
|
IBIS
|
7 / 7739
|
|
25
|
(HPO:0000711)
|
Restlessness |
|
|
24222285
|
IBIS
|
18 / 7739
|
|
26
|
(HPO:0011968)
|
Feeding difficulties |
|
|
24889030
|
IBIS
|
240 / 7739
|
|
27
|
(HPO:0002329)
|
Drowsiness |
|
|
24889030
|
IBIS
|
19 / 7739
|
|
28
|
(HPO:0002789)
|
Tachypnea |
|
|
24889030
|
IBIS
|
48 / 7739
|
|
29
|
(HPO:0005943)
|
Respiratory arrest |
|
|
24222285
|
IBIS
|
5 / 7739
|
|
30
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
24765495
|
IBIS
|
51 / 7739
|
|
31
|
(HPO:0001824)
|
Weight loss |
|
|
24765495
|
IBIS
|
42 / 7739
|
|
32
|
(HPO:0002045)
|
Hypothermia |
|
|
24765495
|
IBIS
|
27 / 7739
|
|
33
|
(HPO:0007185)
|
Loss of consciousness |
|
|
24508627
|
IBIS
|
9 / 7739
|
|
34
|
(HPO:0001262)
|
Somnolence |
|
|
24508627
|
IBIS
|
20 / 7739
|
|
35
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
24182831
|
IBIS
|
212 / 7739
|
|
36
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
24222285
|
IBIS
|
31 / 7739
|