|
1
|
(HPO:0000124)
|
Renal tubular dysfunction |
|
|
|
|
46 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0001259)
|
Coma |
|
|
|
|
65 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0001649)
|
Tachycardia |
|
|
|
|
53 / 7739
|
|
8
|
(HPO:0001942)
|
Metabolic acidosis |
|
|
|
|
81 / 7739
|
|
9
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
10
|
(HPO:0002615)
|
Hypotension |
|
|
|
|
52 / 7739
|
|
11
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
12
|
(HPO:0003355)
|
Aminoaciduria |
|
|
|
|
65 / 7739
|
|
13
|
(HPO:0007030)
|
Nonprogressive encephalopathy |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Renal or metabolic acidosis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Irregular breathing |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Stereotyped gestures |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Muscular hypertonia |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Kynureninuria |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
3-hydroxykynureninuria |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Xanthurenic aciduria |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Kynureninase deficiency |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|