Symptom Information: Sort according to HPO 

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