|
1
|
(HPO:0003572)
|
Low plasma citrulline |
|
|
25240982
|
IBIS
|
7 / 7739
|
|
2
|
(HPO:0001298)
|
Encephalopathy |
|
|
20472868; 9221962
|
IBIS
|
72 / 7739
|
|
3
|
(HPO:0003128)
|
Lactic acidosis |
|
|
20472868
|
IBIS
|
116 / 7739
|
|
4
|
(HPO:0002104)
|
Apnea |
|
|
25240982
|
IBIS
|
106 / 7739
|
|
5
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
25240982
|
IBIS
|
153 / 7739
|
|
6
|
(HPO:0001508)
|
Failure to thrive |
|
|
25240982
|
IBIS
|
454 / 7739
|
|
7
|
(HPO:0012469)
|
Infantile spasms |
|
|
25240982
|
IBIS
|
18 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
|
|
25240982
|
IBIS
|
1245 / 7739
|
|
9
|
(HPO:0002791)
|
Hypoventilation |
|
|
19669818
|
IBIS
|
10 / 7739
|
|
10
|
(HPO:0002883)
|
Hyperventilation |
|
|
19669818
|
IBIS
|
10 / 7739
|
|
11
|
(HPO:0002134)
|
Abnormality of the basal ganglia |
|
|
19669818
|
IBIS
|
13 / 7739
|
|
12
|
(HPO:0012502)
|
Abnormality of the internal capsule |
|
|
19669818
|
IBIS
|
1 / 7739
|
|
13
|
(HPO:0002339)
|
Abnormality of the caudate nucleus |
|
|
19669818
|
IBIS
|
1 / 7739
|
|
14
|
(HPO:0010663)
|
Abnormality of thalamus morphology |
|
|
19669818
|
IBIS
|
6 / 7739
|
|
15
|
(HPO:0002418)
|
Abnormality of midbrain morphology |
|
|
19669818
|
IBIS
|
2 / 7739
|
|
16
|
(HPO:0010307)
|
Stridor |
|
|
19669818
|
IBIS
|
19 / 7739
|
|
17
|
(HPO:0001601)
|
Laryngomalacia |
|
|
19669818
|
IBIS
|
61 / 7739
|
|
18
|
(HPO:0002421)
|
Poor head control |
|
|
19669818
|
IBIS
|
23 / 7739
|
|
19
|
(HPO:0002151)
|
Increased serum lactate |
|
|
19669818
|
IBIS
|
92 / 7739
|
|
20
|
(HPO:0002490)
|
Increased CSF lactate |
|
|
19669818
|
IBIS
|
28 / 7739
|
|
21
|
(MedDRA:10007548)
|
Cardiac enzymes increased |
|
|
19669818
|
IBIS
|
4 / 7739
|
|
22
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
19669818
|
IBIS
|
214 / 7739
|
|
23
|
(MedDRA:10058267)
|
Troponin increased |
|
|
19669818
|
IBIS
|
1 / 7739
|
|
24
|
(HPO:0001635)
|
Congestive heart failure |
|
|
19669818
|
IBIS
|
232 / 7739
|
|
25
|
(HPO:0008322)
|
Abnormal mitochondrial morphology |
|
|
19669818
|
IBIS
|
8 / 7739
|
|
26
|
(HPO:0002376)
|
Developmental regression |
|
|
8095070
|
IBIS
|
74 / 7739
|
|
27
|
(HPO:0001251)
|
Ataxia |
|
|
19433277
|
IBIS
|
413 / 7739
|
|
28
|
(HPO:0009062)
|
Infantile axial hypotonia |
|
|
19433277
|
IBIS
|
3 / 7739
|
|
29
|
(HPO:0011950)
|
Bronchiolitis |
|
|
19433277
|
IBIS
|
8 / 7739
|
|
30
|
(HPO:0002013)
|
Vomiting |
|
|
19433277
|
IBIS
|
191 / 7739
|
|
31
|
(HPO:0001350)
|
Slurred speech |
|
|
19433277
|
IBIS
|
16 / 7739
|
|
32
|
(HPO:0002445)
|
Tetraplegia |
|
|
19433277
|
IBIS
|
26 / 7739
|
|
33
|
(HPO:0001324)
|
Muscle weakness |
|
|
22819295
|
IBIS
|
859 / 7739
|
|
34
|
(HPO:0001954)
|
Episodic fever |
|
|
22819295
|
IBIS
|
27 / 7739
|
|
35
|
(HPO:0011947)
|
Respiratory tract infection |
|
|
22819295
|
IBIS
|
28 / 7739
|
|
36
|
(HPO:0000817)
|
Poor eye contact |
|
|
22819295
|
IBIS
|
26 / 7739
|
|
37
|
(HPO:0001315)
|
Reduced tendon reflexes |
|
|
22819295
|
IBIS
|
160 / 7739
|
|
38
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
22819295
|
IBIS
|
51 / 7739
|
|
39
|
(HPO:0001265)
|
Hyporeflexia |
|
|
22819295
|
IBIS
|
208 / 7739
|
|
40
|
(HPO:0002181)
|
Cerebral edema |
|
|
22819295
|
IBIS
|
19 / 7739
|
|
41
|
(HPO:0000252)
|
Microcephaly |
|
|
23206802
|
IBIS
|
832 / 7739
|
|
42
|
(HPO:0001639)
|
Hypertrophic cardiomyopathy |
|
|
19669818
|
IBIS
|
137 / 7739
|