1
|
(HPO:0003355)
|
Aminoaciduria |
Very frequent [IBIS]
Very frequent [Orphanet]
|
|
22241104
|
IBIS
|
65 / 7739
|
2
|
(HPO:0001987)
|
Hyperammonemia |
Very frequent [IBIS]
Frequent [Orphanet]
|
|
23306800
|
IBIS
|
50 / 7739
|
3
|
(MedDRA:10058299)
|
Argininosuccinate lyase deficiency |
Very frequent [IBIS]
|
|
21312326
|
IBIS
|
1 / 7739
|
4
|
(HPO:0001249)
|
Intellectual disability |
Frequent [IBIS]
Frequent [Orphanet]
|
|
22241104
|
IBIS
|
1089 / 7739
|
5
|
(HPO:0001263)
|
Global developmental delay |
Frequent [IBIS]
Frequent [Orphanet]
|
|
21312326
|
IBIS
|
853 / 7739
|
6
|
(HPO:0001328)
|
Specific learning disability |
Frequent [IBIS]
Frequent [Orphanet]
|
|
21312326
|
IBIS
|
114 / 7739
|
7
|
(HPO:0001250)
|
Seizures |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
1245 / 7739
|
8
|
(HPO:0001950)
|
Respiratory alkalosis |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
7 / 7739
|
9
|
(HPO:0002013)
|
Vomiting |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
191 / 7739
|
10
|
(HPO:0003217)
|
Hyperglutaminemia |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
9 / 7739
|
11
|
(HPO:0003218)
|
Oroticaciduria |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
10 / 7739
|
12
|
(HPO:0005961)
|
Hypoargininemia |
Frequent [IBIS]
|
|
19592285
|
IBIS
|
7 / 7739
|
13
|
(HPO:0100543)
|
Cognitive impairment |
Frequent [IBIS]
Frequent [Orphanet]
|
|
22901741
|
IBIS
|
230 / 7739
|
14
|
(HPO:0011968)
|
Feeding difficulties |
Frequent [IBIS]
|
|
22241104
|
IBIS
|
240 / 7739
|
15
|
(OMIM)
|
Argininosuccinicaciduria |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
1 / 7739
|
16
|
(HPO:0002045)
|
Hypothermia |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
27 / 7739
|
17
|
(HPO:0011966)
|
Elevated plasma citrulline |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
5 / 7739
|
18
|
(HPO:0003348)
|
Hyperalaninemia |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
19 / 7739
|
19
|
(HPO:0002154)
|
Hyperglycinemia |
Frequent [IBIS]
|
|
21312326
|
IBIS
|
12 / 7739
|
20
|
(HPO:0002208)
|
Coarse hair |
Frequent [IBIS]
|
|
22241104
|
IBIS
|
58 / 7739
|
21
|
(HPO:0001006)
|
Hypotrichosis |
Occasional [Orphanet]
|
|
4165309
|
IBIS
|
219 / 7739
|
22
|
(HPO:0002209)
|
Sparse scalp hair |
Occasional [Orphanet]
|
|
22241104
|
IBIS
|
59 / 7739
|
23
|
(HPO:0004337)
|
Abnormality of amino acid metabolism |
Very frequent [Orphanet]
|
|
22241104
|
IBIS
|
45 / 7739
|
24
|
(HPO:0001251)
|
Ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
7682674
|
IBIS
|
413 / 7739
|
25
|
(HPO:0002066)
|
Gait ataxia |
Frequent [Orphanet]
typical [HPO]
|
|
7137886
|
IBIS
|
327 / 7739
|
26
|
(HPO:0002311)
|
Incoordination |
Frequent [Orphanet]
|
|
7137886
|
IBIS
|
84 / 7739
|
27
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
21312326
|
IBIS
|
188 / 7739
|
28
|
(HPO:0001270)
|
Motor delay |
Frequent [Orphanet]
|
|
1594374
|
IBIS
|
322 / 7739
|
29
|
(HPO:0001254)
|
Lethargy |
|
|
21312326
|
IBIS
|
104 / 7739
|
30
|
(HPO:0001259)
|
Coma |
|
|
22241104
|
IBIS
|
65 / 7739
|
31
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
21312326
|
IBIS
|
67 / 7739
|
32
|
(HPO:0001508)
|
Failure to thrive |
|
|
6886731
|
IBIS
|
454 / 7739
|
33
|
(HPO:0001510)
|
Growth delay |
|
|
6886731
|
IBIS
|
295 / 7739
|
34
|
(HPO:0002240)
|
Hepatomegaly |
|
|
21312326
|
IBIS
|
467 / 7739
|
35
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
22241104
|
IBIS
|
153 / 7739
|
36
|
(HPO:0001808)
|
Fragile nails |
|
|
4165309
|
IBIS
|
21 / 7739
|
37
|
(HPO:0002299)
|
Brittle hair |
|
|
4165309
|
IBIS
|
52 / 7739
|
38
|
(HPO:0004779)
|
Brittle scalp hair |
|
|
21312326
|
IBIS
|
4 / 7739
|
39
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
21312326
|
IBIS
|
12 / 7739
|
40
|
(HPO:0011362)
|
Abnormal hair quantity |
Occasional [Orphanet]
|
|
4165309
|
IBIS
|
92 / 7739
|
41
|
(OMIM)
|
Hepatic argininosuccinase deficiency |
|
|
21312326
|
IBIS
|
1 / 7739
|
42
|
(HPO:0002789)
|
Tachypnea |
|
|
21312326
|
IBIS
|
48 / 7739
|
43
|
(HPO:0000708)
|
Behavioral abnormality |
|
|
21312326
|
IBIS
|
212 / 7739
|
44
|
(HPO:0012115)
|
Hepatitis |
|
|
21312326
|
IBIS
|
24 / 7739
|
45
|
(HPO:0001394)
|
Cirrhosis |
|
|
21312326
|
IBIS
|
102 / 7739
|
46
|
(HPO:0000822)
|
Hypertension |
|
|
21312326
|
IBIS
|
224 / 7739
|
47
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
21312326
|
IBIS
|
56 / 7739
|
48
|
(HPO:0002900)
|
Hypokalemia |
|
|
22241104
|
IBIS
|
45 / 7739
|
49
|
(HPO:0000709)
|
Psychosis |
|
|
2715782
|
IBIS
|
61 / 7739
|
50
|
(HPO:0001596)
|
Alopecia |
|
|
4165309
|
IBIS
|
162 / 7739
|
51
|
(HPO:0002312)
|
Clumsiness |
|
|
7137886
|
IBIS
|
28 / 7739
|
52
|
(HPO:0001298)
|
Encephalopathy |
|
|
19635676
|
IBIS
|
72 / 7739
|
53
|
(HPO:0001289)
|
Confusion |
|
|
22784324
|
IBIS
|
36 / 7739
|
54
|
(HPO:0001262)
|
Somnolence |
|
|
2715782
|
IBIS
|
20 / 7739
|