Symptom Information: Sort according to HPO 

1
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [IBIS] Very frequent [Orphanet] 26440671 IBIS 45 / 7739
2
 (HPO:0001987) Hyperammonemia Very frequent [IBIS] Very frequent [Orphanet] 20800523 IBIS 50 / 7739
3
 (HPO:0003572) Low plasma citrulline Very frequent [IBIS] 20800523 IBIS 7 / 7739
4
 (MedDRA:10058297) Carbamoyl phosphate synthetase deficiency Very frequent [IBIS] 8273985 IBIS 1 / 7739
5
 (HPO:0001250) Seizures Frequent [IBIS] Very frequent [Orphanet] 8273985 IBIS 1245 / 7739
6
 (HPO:0001252) Muscular hypotonia Frequent [IBIS] Very frequent [Orphanet] 6438391 IBIS 990 / 7739
7
 (HPO:0001263) Global developmental delay Frequent [IBIS] 7252721 IBIS 853 / 7739
8
 (HPO:0001254) Lethargy Frequent [IBIS] 7252721 IBIS 104 / 7739
9
 (HPO:0001259) Coma Frequent [IBIS] 8273985 IBIS 65 / 7739
10
 (HPO:0001950) Respiratory alkalosis Frequent [IBIS] 19167850 IBIS 7 / 7739
11
 (HPO:0002013) Vomiting Frequent [IBIS] 6485804 IBIS 191 / 7739
12
 (OMIM) Low urinary orotic acid Frequent [IBIS] 4641111 IBIS 1 / 7739
13
 (HPO:0003217) Hyperglutaminemia Frequent [IBIS] 20800523 IBIS 9 / 7739
14
 (HPO:0008872) Feeding difficulties in infancy Frequent [IBIS] 19167850 IBIS 153 / 7739
15
 (HPO:0002033) Poor suck Frequent [IBIS] 26440671 IBIS 37 / 7739
16
 (HPO:0002045) Hypothermia Frequent [IBIS] 26440671 IBIS 27 / 7739
17
 (HPO:0001324) Muscle weakness Very frequent [Orphanet] hallmark [HPO] 6438391 IBIS 859 / 7739
18
 (HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 12055368 IBIS 410 / 7739
19
 (HPO:0002094) Dyspnea Very frequent [Orphanet] 12055368 IBIS 132 / 7739
20
 (HPO:0002098) Respiratory distress Very frequent [Orphanet] 12055368 IBIS 75 / 7739
21
 (HPO:0000737) Irritability 2745145 IBIS 93 / 7739
22
 (HPO:0001249) Intellectual disability 7252721 IBIS 1089 / 7739
23
 (HPO:0001251) Ataxia 7252721 IBIS 413 / 7739
24
 (HPO:0001297) Stroke 21837743 IBIS 44 / 7739
25
 (HPO:0001510) Growth delay 7252721 IBIS 295 / 7739
26
 (HPO:0002038) Protein avoidance 21837743 IBIS 7 / 7739
27
 (HPO:0002181) Cerebral edema 2974563 IBIS 19 / 7739
28
 (HPO:0005961) Hypoargininemia 6511918 IBIS 7 / 7739
29
 (HPO:0001289) Confusion 8273985 IBIS 36 / 7739
30
 (HPO:0000713) Agitation 8273985 IBIS 18 / 7739
31
 (MedDRA:10073346) Decerebrate posture 8273985 IBIS 2 / 7739
32
 (HPO:0000873) Diabetes insipidus 8273985 IBIS 34 / 7739
33
 (HPO:0003348) Hyperalaninemia 8273985 IBIS 19 / 7739
34
 (HPO:0001260) Dysarthria 21837743 IBIS 329 / 7739
35
 (HPO:0003484) Upper limb muscle weakness 21837743 IBIS 19 / 7739
36
 (HPO:0000751) Personality changes 21837743 IBIS 33 / 7739
37
 (HPO:0002018) Nausea 21837743 IBIS 44 / 7739
38
 (HPO:0003326) Myalgia 21837743 IBIS 143 / 7739
39
 (HPO:0000712) Emotional lability 21837743 IBIS 44 / 7739
40
 (HPO:0000741) Apathy 21837743 IBIS 42 / 7739
41
 (HPO:0200085) Limb tremor 21837743 IBIS 6 / 7739
42
 (HPO:0002789) Tachypnea 19167850 IBIS 48 / 7739
43
 (HPO:0001262) Somnolence 19167850 IBIS 20 / 7739
44
 (HPO:0002059) Cerebral atrophy 1414247 IBIS 171 / 7739
45
 (HPO:0200134) Epileptic encephalopathy 1414247 IBIS 42 / 7739
46
 (HPO:0001649) Tachycardia 2745145 IBIS 53 / 7739
47
 (HPO:0200114) Metabolic alkalosis 2745145 IBIS 6 / 7739
48
 (HPO:0100520) Oliguria 6485804 IBIS 14 / 7739
49
 (HPO:0002533) Abnormal posturing 8273985 IBIS 6 / 7739
50
 (HPO:0001531) Failure to thrive in infancy 4641111 IBIS 26 / 7739
51
 (HPO:0001508) Failure to thrive 26440671 IBIS 454 / 7739
52
 (HPO:0002104) Apnea 26440671 IBIS 106 / 7739
53
 (HPO:0002509) Limb hypertonia 26440671 IBIS 13 / 7739