1
|
(HPO:0001270)
|
Motor delay |
Very frequent [IBIS]
|
94% (n=16)
|
18978333
|
IBIS
|
322 / 7739
|
2
|
(HPO:0001347)
|
Hyperreflexia |
Very frequent [IBIS]
|
94% (n=16)
|
18978333
|
IBIS
|
363 / 7739
|
3
|
(HPO:0012026)
|
Hyperornithinemia |
Very frequent [IBIS]
|
|
3670619
|
IBIS
|
1 / 7739
|
4
|
(OMIM)
|
Homocitrullinuria |
Very frequent [IBIS]
|
|
3670619
|
IBIS
|
2 / 7739
|
5
|
(OMIM)
|
Hyperarginemia |
Very frequent [IBIS]
|
|
24473688
|
IBIS
|
3 / 7739
|
6
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
|
81% (n=16)
|
18978333
|
IBIS
|
114 / 7739
|
7
|
(HPO:0001987)
|
Hyperammonemia |
Frequent [IBIS]
|
75% (n=16)
|
18978333
|
IBIS
|
50 / 7739
|
8
|
(HPO:0001257)
|
Spasticity |
Frequent [IBIS]
|
75% (n=16)
|
18978333
|
IBIS
|
251 / 7739
|
9
|
(HPO:0030051)
|
Tip-toe gait |
Frequent [IBIS]
|
75% (n=16)
|
18978333
|
IBIS
|
10 / 7739
|
10
|
(HPO:0002169)
|
Clonus |
Frequent [IBIS]
|
69% (n=16)
|
18978333
|
IBIS
|
37 / 7739
|
11
|
(HPO:0002370)
|
Poor coordination |
Frequent [IBIS]
|
56% (n=16)
|
18978333
|
IBIS
|
15 / 7739
|
12
|
(HPO:0002313)
|
Spastic paraparesis |
Frequent [IBIS]
|
50% (n=16)
|
18978333
|
IBIS
|
33 / 7739
|
13
|
(HPO:0002910)
|
Elevated hepatic transaminases |
Frequent [IBIS]
|
44% (n=16)
|
18978333
|
IBIS
|
158 / 7739
|
14
|
(HPO:0001410)
|
Decreased liver function |
Frequent [IBIS]
|
38% (n=16)
|
18978333
|
IBIS
|
59 / 7739
|
15
|
(HPO:0001259)
|
Coma |
Frequent [IBIS]
|
|
25874378
|
IBIS
|
65 / 7739
|
16
|
(HPO:0002572)
|
Episodic vomiting |
Frequent [IBIS]
|
|
25874378
|
IBIS
|
12 / 7739
|
17
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
|
3116497
|
IBIS
|
191 / 7739
|
18
|
(HPO:0001289)
|
Confusion |
Frequent [IBIS]
|
|
2222247
|
IBIS
|
36 / 7739
|
19
|
(HPO:0001250)
|
Seizures |
Occasional [IBIS]
|
31% (n=16)
|
18978333
|
IBIS
|
1245 / 7739
|
20
|
(OMIM)
|
Buccolingofacial dyspraxia |
Occasional [IBIS]
|
31% (n=16)
|
18978333
|
IBIS
|
1 / 7739
|
21
|
(HPO:0001249)
|
Intellectual disability |
Occasional [IBIS]
|
25% (n=16)
|
18978333
|
IBIS
|
1089 / 7739
|
22
|
(HPO:0002120)
|
Cerebral cortical atrophy |
Occasional [IBIS]
|
25% (n=16)
|
18978333
|
IBIS
|
187 / 7739
|
23
|
(HPO:0100543)
|
Cognitive impairment |
Occasional [IBIS]
|
25% (n=16)
|
18978333
|
IBIS
|
230 / 7739
|
24
|
(HPO:0000529)
|
Progressive visual loss |
Occasional [IBIS]
|
|
25411929
|
IBIS
|
54 / 7739
|
25
|
(HPO:0000662)
|
Nyctalopia |
Rare [IBIS]
|
|
25411929
|
IBIS
|
92 / 7739
|
26
|
(HPO:0007648)
|
Punctate cataract |
Rare [IBIS]
|
|
25411929
|
IBIS
|
2 / 7739
|
27
|
(HPO:0012152)
|
Foveoschisis |
Rare [IBIS]
|
|
25411929
|
IBIS
|
3 / 7739
|
28
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
25411929
|
IBIS
|
24 / 7739
|
29
|
(HPO:0001263)
|
Global developmental delay |
|
|
18978333
|
IBIS
|
853 / 7739
|
30
|
(HPO:0001254)
|
Lethargy |
|
|
3116497
|
IBIS
|
104 / 7739
|
31
|
(HPO:0001508)
|
Failure to thrive |
|
|
24473688
|
IBIS
|
454 / 7739
|
32
|
(HPO:0001510)
|
Growth delay |
|
|
22465082
|
IBIS
|
295 / 7739
|
33
|
(HPO:0002038)
|
Protein avoidance |
|
|
18978333; 25874378
|
IBIS
|
7 / 7739
|
34
|
(HPO:0002062)
|
Morphological abnormality of the pyramidal tract |
|
|
11552031
|
IBIS
|
24 / 7739
|
35
|
(HPO:0002123)
|
Generalized myoclonic seizures |
|
|
5782534
|
IBIS
|
62 / 7739
|
36
|
(HPO:0001336)
|
Myoclonus |
|
|
3670619
|
IBIS
|
115 / 7739
|
37
|
(HPO:0002240)
|
Hepatomegaly |
|
|
18978333
|
IBIS
|
467 / 7739
|
38
|
(HPO:0002495)
|
Impaired vibratory sensation |
|
|
1432421
|
IBIS
|
26 / 7739
|
39
|
(HPO:0006846)
|
Acute encephalopathy |
|
|
18978333
|
IBIS
|
3 / 7739
|
40
|
(HPO:0200119)
|
Acute hepatitis |
|
|
18978333
|
IBIS
|
2 / 7739
|
41
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
24473688
|
IBIS
|
990 / 7739
|
42
|
(HPO:0001324)
|
Muscle weakness |
|
|
3670619
|
IBIS
|
859 / 7739
|
43
|
(HPO:0007256)
|
Abnormal pyramidal signs |
|
|
11552031
|
IBIS
|
116 / 7739
|
44
|
(OMIM)
|
Coagulopathy due to liver dysfunction |
|
|
18978333
|
IBIS
|
1 / 7739
|
45
|
(HPO:0001251)
|
Ataxia |
|
|
3116497
|
IBIS
|
413 / 7739
|
46
|
(OMIM)
|
Stuporous catatonia |
|
|
3670619
|
IBIS
|
2 / 7739
|
47
|
(HPO:0003217)
|
Hyperglutaminemia |
|
|
2222247
|
IBIS
|
9 / 7739
|
48
|
(HPO:0003348)
|
Hyperalaninemia |
|
|
2222247
|
IBIS
|
19 / 7739
|
49
|
(HPO:0003218)
|
Oroticaciduria |
|
|
2222247
|
IBIS
|
10 / 7739
|
50
|
(HPO:0001298)
|
Encephalopathy |
|
|
18978333
|
IBIS
|
72 / 7739
|
51
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
18978333
|
IBIS
|
56 / 7739
|
52
|
(HPO:0006579)
|
Prolonged neonatal jaundice |
|
|
24473688
|
IBIS
|
25 / 7739
|
53
|
(HPO:0007340)
|
Lower limb muscle weakness |
|
|
3670619
|
IBIS
|
61 / 7739
|
54
|
(HPO:0012115)
|
Hepatitis |
|
|
18978333
|
IBIS
|
24 / 7739
|
55
|
(HPO:0001928)
|
Abnormality of coagulation |
|
|
18978333
|
IBIS
|
44 / 7739
|
56
|
(HPO:0002401)
|
Stroke-like episodes |
|
|
24473688
|
IBIS
|
10 / 7739
|
57
|
(HPO:0002904)
|
Hyperbilirubinemia |
|
|
24473688
|
IBIS
|
32 / 7739
|
58
|
(HPO:0005560)
|
Imbalanced hemoglobin synthesis |
|
|
24473688
|
IBIS
|
2 / 7739
|
59
|
(HPO:0012127)
|
Uraciluria |
|
|
24473688
|
IBIS
|
2 / 7739
|
60
|
(HPO:0003235)
|
Hypermethioninemia |
|
|
24473688
|
IBIS
|
8 / 7739
|
61
|
(HPO:0002312)
|
Clumsiness |
|
|
24473688
|
IBIS
|
28 / 7739
|
62
|
(HPO:0002066)
|
Gait ataxia |
|
|
24473688
|
IBIS
|
327 / 7739
|
63
|
(HPO:0001288)
|
Gait disturbance |
|
|
23430880
|
IBIS
|
318 / 7739
|
64
|
(HPO:0004324)
|
Increased body weight |
|
|
23430880
|
IBIS
|
4 / 7739
|
65
|
(HPO:0002014)
|
Diarrhea |
|
|
23430880
|
IBIS
|
225 / 7739
|
66
|
(HPO:0002141)
|
Gait imbalance |
|
|
23430880
|
IBIS
|
55 / 7739
|
67
|
(HPO:0001350)
|
Slurred speech |
|
|
23430880
|
IBIS
|
16 / 7739
|
68
|
(HPO:0001332)
|
Dystonia |
|
|
23247599
|
IBIS
|
197 / 7739
|
69
|
(MedDRA:10033666)
|
Panic disorder |
|
|
23247599
|
IBIS
|
2 / 7739
|
70
|
(HPO:0002574)
|
Episodic abdominal pain |
|
|
23247599
|
IBIS
|
10 / 7739
|
71
|
(HPO:0000639)
|
Nystagmus |
|
|
23247599
|
IBIS
|
555 / 7739
|
72
|
(HPO:0002075)
|
Dysdiadochokinesis |
|
|
23247599
|
IBIS
|
40 / 7739
|
73
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
23247599
|
IBIS
|
21 / 7739
|
74
|
(HPO:0011448)
|
Ankle clonus |
|
|
23247599
|
IBIS
|
31 / 7739
|
75
|
(OMIM)
|
Deficits in abstraction |
|
|
23247599
|
IBIS
|
2 / 7739
|
76
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
3407856; 11552031
|
IBIS
|
73 / 7739
|
77
|
(HPO:0011098)
|
Speech apraxia |
|
|
1432421
|
IBIS
|
9 / 7739
|
78
|
(MedDRA:10043396)
|
Thalassaemia trait |
|
|
24473688
|
IBIS
|
1 / 7739
|
79
|
(HPO:0011400)
|
Abnormal CNS myelination |
|
|
17825324
|
IBIS
|
10 / 7739
|
80
|
(HPO:0002121)
|
Absence seizures |
|
|
18978333
|
IBIS
|
62 / 7739
|
81
|
(HPO:0011968)
|
Feeding difficulties |
|
|
22649802
|
IBIS
|
240 / 7739
|
82
|
(HPO:0002789)
|
Tachypnea |
|
|
22649802
|
IBIS
|
48 / 7739
|