1
|
(OMIM)
|
Hyperarginemia |
Very frequent [IBIS]
|
100% (n=27)
|
22633632
|
IBIS
|
3 / 7739
|
2
|
(HPO:0010909)
|
Abnormality of arginine metabolism |
Very frequent [IBIS]
|
100% (n=27)
|
15694174
|
IBIS
|
3 / 7739
|
3
|
(HPO:0001263)
|
Global developmental delay |
Very frequent [IBIS]
Very frequent [Orphanet]
|
96% (n=25)
|
15694174
|
IBIS
|
853 / 7739
|
4
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
Very frequent [IBIS]
|
95% (n=21)
|
15694174
|
IBIS
|
188 / 7739
|
5
|
(HPO:0001264)
|
Spastic diplegia |
Very frequent [IBIS]
|
91% (n=23)
|
15694174
|
IBIS
|
24 / 7739
|
6
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
15694174
|
IBIS
|
45 / 7739
|
7
|
(MedDRA:10062695)
|
Arginase deficiency |
Very frequent [IBIS]
|
|
15694174
|
IBIS
|
1 / 7739
|
8
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [Orphanet]
Frequent [IBIS]
|
88% (n=26)
|
15694174
|
IBIS
|
50 / 7739
|
9
|
(HPO:0001270)
|
Motor delay |
Very frequent [Orphanet]
Frequent [IBIS]
|
85% (n=23)
|
15694174
|
IBIS
|
322 / 7739
|
10
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
83% (n=24)
|
15694174
|
IBIS
|
191 / 7739
|
11
|
(HPO:0001510)
|
Growth delay |
Frequent [IBIS]
|
81% (n=21)
|
15694174
|
IBIS
|
295 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
Frequent [IBIS]
|
62% (n=26)
|
15694174
|
IBIS
|
1245 / 7739
|
13
|
(HPO:0002059)
|
Cerebral atrophy |
Frequent [IBIS]
|
55% (n=11)
|
15694174
|
IBIS
|
171 / 7739
|
14
|
(HPO:0000252)
|
Microcephaly |
Frequent [IBIS]
|
41% (n=17)
|
9378897
|
IBIS
|
832 / 7739
|
15
|
(HPO:0002038)
|
Protein avoidance |
Frequent [IBIS]
|
40% (n=25)
|
15694174
|
IBIS
|
7 / 7739
|
16
|
(HPO:0011097)
|
Epileptic spasms |
Frequent [IBIS]
Frequent [Orphanet]
|
|
22964440
|
IBIS
|
45 / 7739
|
17
|
(HPO:0003355)
|
Aminoaciduria |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
10771848
|
IBIS
|
65 / 7739
|
18
|
(HPO:0000708)
|
Behavioral abnormality |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
15694174
|
IBIS
|
212 / 7739
|
19
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
15694174
|
IBIS
|
1089 / 7739
|
20
|
(HPO:0001269)
|
Hemiparesis |
Frequent [IBIS]
Frequent [Orphanet]
typical [HPO]
|
|
15694174
|
IBIS
|
51 / 7739
|
21
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
15694174
|
IBIS
|
308 / 7739
|
22
|
(HPO:0003218)
|
Oroticaciduria |
Frequent [IBIS]
|
|
15694174
|
IBIS
|
10 / 7739
|
23
|
(HPO:0008339)
|
Diaminoaciduria |
Frequent [IBIS]
|
|
14605507
|
IBIS
|
1 / 7739
|
24
|
(HPO:0008897)
|
Postnatal growth retardation |
Frequent [IBIS]
|
|
15694174
|
IBIS
|
113 / 7739
|
25
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
Very frequent [Orphanet]
|
|
15694174
|
IBIS
|
230 / 7739
|
26
|
(HPO:0001258)
|
Spastic paraplegia |
Frequent [IBIS]
|
|
22964440
|
IBIS
|
97 / 7739
|
27
|
(HPO:0007307)
|
Rapid neurologic deterioration |
Occasional [IBIS]
|
22% (n=27)
|
9378897
|
IBIS
|
3 / 7739
|
28
|
(HPO:0002478)
|
Progressive spastic quadriplegia |
Occasional [IBIS]
|
9% (n=23)
|
15694174
|
IBIS
|
7 / 7739
|
29
|
(HPO:0001298)
|
Encephalopathy |
Occasional [IBIS]
|
|
22633632
|
IBIS
|
72 / 7739
|
30
|
(HPO:0002240)
|
Hepatomegaly |
Occasional [IBIS]
|
|
15694174
|
IBIS
|
467 / 7739
|
31
|
(HPO:0001395)
|
Hepatic fibrosis |
Occasional [IBIS]
|
|
15694174
|
IBIS
|
67 / 7739
|
32
|
(HPO:0000709)
|
Psychosis |
Occasional [IBIS]
|
|
15694174
|
IBIS
|
61 / 7739
|
33
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
Occasional [IBIS]
|
|
22964440
|
IBIS
|
25 / 7739
|
34
|
(HPO:0002133)
|
Status epilepticus |
Frequent [Orphanet]
|
|
24258525
|
IBIS
|
59 / 7739
|
35
|
(HPO:0000737)
|
Irritability |
|
|
15694174
|
IBIS
|
93 / 7739
|
36
|
(HPO:0000752)
|
Hyperactivity |
|
|
839367
|
IBIS
|
140 / 7739
|
37
|
(HPO:0002039)
|
Anorexia |
|
|
15694174
|
IBIS
|
62 / 7739
|
38
|
(OMIM)
|
Protein intolerance |
|
|
3104676
|
IBIS
|
2 / 7739
|
39
|
(HPO:0001288)
|
Gait disturbance |
|
|
15694174
|
IBIS
|
318 / 7739
|
40
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
15694174
|
IBIS
|
56 / 7739
|
41
|
(HPO:0001276)
|
Hypertonia |
|
|
15694174
|
IBIS
|
317 / 7739
|
42
|
(HPO:0001347)
|
Hyperreflexia |
|
|
15694174
|
IBIS
|
363 / 7739
|
43
|
(HPO:0011968)
|
Feeding difficulties |
|
|
15694174
|
IBIS
|
240 / 7739
|
44
|
(HPO:0001291)
|
Abnormality of the cranial nerves |
|
|
15694174
|
IBIS
|
27 / 7739
|
45
|
(HPO:0002181)
|
Cerebral edema |
|
|
15694174
|
IBIS
|
19 / 7739
|
46
|
(MedDRA:10006126)
|
Brain herniation |
|
|
15694174
|
IBIS
|
1 / 7739
|
47
|
(HPO:0002169)
|
Clonus |
|
|
15694174
|
IBIS
|
37 / 7739
|
48
|
(HPO:0007064)
|
Progressive language deterioration |
|
|
15694174
|
IBIS
|
3 / 7739
|
49
|
(HPO:0001262)
|
Somnolence |
|
|
15694174
|
IBIS
|
20 / 7739
|
50
|
(HPO:0001289)
|
Confusion |
|
|
15694174
|
IBIS
|
36 / 7739
|
51
|
(HPO:0002312)
|
Clumsiness |
|
|
15694174
|
IBIS
|
28 / 7739
|
52
|
(HPO:0000716)
|
Depression |
|
|
15694174
|
IBIS
|
99 / 7739
|
53
|
(HPO:0006466)
|
Ankle contracture |
|
|
15694174
|
IBIS
|
17 / 7739
|
54
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
15694174
|
IBIS
|
27 / 7739
|
55
|
(HPO:0006380)
|
Knee flexion contracture |
|
|
15694174
|
IBIS
|
56 / 7739
|
56
|
(HPO:0001259)
|
Coma |
|
|
15694174
|
IBIS
|
65 / 7739
|
57
|
(HPO:0002359)
|
Frequent falls |
|
|
15694174
|
IBIS
|
24 / 7739
|
58
|
(HPO:0001251)
|
Ataxia |
|
|
15694174
|
IBIS
|
413 / 7739
|
59
|
(HPO:0002018)
|
Nausea |
|
|
15694174
|
IBIS
|
44 / 7739
|
60
|
(HPO:0001254)
|
Lethargy |
|
|
15694174
|
IBIS
|
104 / 7739
|
61
|
(HPO:0001394)
|
Cirrhosis |
|
|
9106111
|
IBIS
|
102 / 7739
|
62
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
15694174
|
IBIS
|
44 / 7739
|
63
|
(HPO:0003259)
|
Elevated serum creatinine |
|
|
15694174
|
IBIS
|
31 / 7739
|
64
|
(HPO:0001332)
|
Dystonia |
|
|
22964440
|
IBIS
|
197 / 7739
|
65
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
22964440
|
IBIS
|
206 / 7739
|
66
|
(HPO:0001402)
|
Hepatocellular carcinoma |
|
|
22964440
|
IBIS
|
25 / 7739
|
67
|
(HPO:0030051)
|
Tip-toe gait |
|
|
22964440
|
IBIS
|
10 / 7739
|
68
|
(HPO:0001257)
|
Spasticity |
|
|
15694174
|
IBIS
|
251 / 7739
|
69
|
(HPO:0002311)
|
Incoordination |
|
|
15694174
|
IBIS
|
84 / 7739
|
70
|
(HPO:0004386)
|
Gastrointestinal inflammation |
|
|
15694174
|
IBIS
|
5 / 7739
|
71
|
(HPO:0002921)
|
Abnormality of the cerebrospinal fluid |
|
|
19052914
|
IBIS
|
6 / 7739
|
72
|
(HPO:0002104)
|
Apnea |
|
|
12640389
|
IBIS
|
106 / 7739
|
73
|
(HPO:0011966)
|
Elevated plasma citrulline |
|
|
24224027
|
IBIS
|
5 / 7739
|
74
|
(HPO:0003268)
|
Argininuria |
|
|
22633632
|
IBIS
|
5 / 7739
|