|
1
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
|
2
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
6
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
7
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
8
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
|
9
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
|
10
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
|
|
28 / 7739
|
|
11
|
(HPO:0002013)
|
Vomiting |
|
|
|
|
191 / 7739
|
|
12
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
13
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
|
|
76 / 7739
|
|
14
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
15
|
(HPO:0003149)
|
Hyperuricosuria |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
17
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
18
|
(HPO:0001997)
|
Gout |
|
|
|
|
18 / 7739
|
|
19
|
(OMIM)
|
Uric acid tophi |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
21
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
22
|
(OMIM)
|
Self-injurious behavior, median onset age 2 years |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Basal ganglia dysfunction |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
Spasticity, hyperreflexia |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
26
|
(HPO:0002149)
|
Hyperuricemia |
|
|
|
|
37 / 7739
|