1
|
(HPO:0000083)
|
Renal insufficiency |
Frequent [Orphanet]
|
|
23975452; 18067674
|
IBIS
|
232 / 7739
|
2
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
23975452
|
IBIS
|
212 / 7739
|
3
|
(HPO:0000790)
|
Hematuria |
Frequent [Orphanet]
|
|
|
|
106 / 7739
|
4
|
(HPO:0001276)
|
Hypertonia |
Very frequent [Orphanet]
|
|
|
|
317 / 7739
|
5
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
6
|
(HPO:0002149)
|
Hyperuricemia |
Very frequent [Orphanet]
|
|
23622405; 23975452; 18067674
|
IBIS
|
37 / 7739
|
7
|
(HPO:0004374)
|
Hemiplegia/hemiparesis |
Very frequent [Orphanet]
|
|
|
|
158 / 7739
|
8
|
(HPO:0100022)
|
Abnormality of movement |
Very frequent [Orphanet]
|
|
18067674
|
IBIS
|
129 / 7739
|
9
|
(HPO:0100769)
|
Synovitis |
Very frequent [Orphanet]
|
|
|
|
86 / 7739
|
10
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
11
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
12
|
(HPO:0000787)
|
Nephrolithiasis |
|
|
23622405; 23975452; 18067674
|
IBIS
|
78 / 7739
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
23622405; 23975452
|
IBIS
|
1089 / 7739
|
14
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
15
|
(HPO:0001257)
|
Spasticity |
|
|
18067674
|
IBIS
|
251 / 7739
|
16
|
(HPO:0001260)
|
Dysarthria |
|
|
18067674
|
IBIS
|
329 / 7739
|
17
|
(HPO:0001266)
|
Choreoathetosis |
|
|
23622405; 18067674
|
IBIS
|
57 / 7739
|
18
|
(HPO:0001270)
|
Motor delay |
|
|
23975452
|
IBIS
|
322 / 7739
|
19
|
(HPO:0001332)
|
Dystonia |
|
|
23622405; 18067674
|
IBIS
|
197 / 7739
|
20
|
(HPO:0001347)
|
Hyperreflexia |
|
|
18067674
|
IBIS
|
363 / 7739
|
21
|
(HPO:0001854)
|
Podagra |
|
|
|
|
2 / 7739
|
22
|
(HPO:0001889)
|
Megaloblastic anemia |
|
|
18067674
|
IBIS
|
28 / 7739
|
23
|
(HPO:0002013)
|
Vomiting |
|
|
18067674
|
IBIS
|
191 / 7739
|
24
|
(HPO:0002015)
|
Dysphagia |
|
|
18067674
|
IBIS
|
301 / 7739
|
25
|
(HPO:0002071)
|
Abnormality of extrapyramidal motor function |
|
|
18067674
|
IBIS
|
76 / 7739
|
26
|
(HPO:0002179)
|
Opisthotonus |
|
|
18067674
|
IBIS
|
35 / 7739
|
27
|
(HPO:0003149)
|
Hyperuricosuria |
|
|
23975452; 18067674
|
IBIS
|
7 / 7739
|
28
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
29
|
(HPO:0001997)
|
Gout |
|
|
23622405; 23975452; 18067674
|
IBIS
|
18 / 7739
|
30
|
(HPO:0002275)
|
Poor motor coordination |
|
|
23622405
|
IBIS
|
6 / 7739
|
31
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
23622405
|
IBIS
|
51 / 7739
|
32
|
(HPO:0002492)
|
Abnormality of the corticospinal tract |
|
|
23622405
|
IBIS
|
2 / 7739
|
33
|
(HPO:0100716)
|
Self-injurious behavior |
|
|
23622405; 23975452; 18067674
|
IBIS
|
43 / 7739
|
34
|
(HPO:0000718)
|
Aggressive behavior |
|
|
23622405
|
IBIS
|
109 / 7739
|
35
|
(HPO:0100543)
|
Cognitive impairment |
|
|
23622405; 18067674
|
IBIS
|
230 / 7739
|
36
|
(HPO:0011442)
|
Abnormality of central motor function |
|
|
23975452
|
IBIS
|
76 / 7739
|
37
|
(HPO:0012433)
|
Abnormal social behavior |
|
|
23975452
|
IBIS
|
7 / 7739
|
38
|
(HPO:0006000)
|
Ureteral obstruction |
|
|
23975452; 18067674
|
IBIS
|
3 / 7739
|
39
|
(HPO:0007325)
|
Generalized dystonia |
|
|
23975452
|
IBIS
|
7 / 7739
|
40
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
23975452; 18067674
|
IBIS
|
141 / 7739
|
41
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
23975452; 18067674
|
IBIS
|
37 / 7739
|
42
|
(HPO:0000736)
|
Short attention span |
|
|
23975452; 18067674
|
IBIS
|
16 / 7739
|
43
|
(HPO:0000791)
|
Uric acid nephrolithiasis |
|
|
18067674
|
IBIS
|
4 / 7739
|
44
|
(HPO:0001263)
|
Global developmental delay |
|
|
18067674
|
IBIS
|
853 / 7739
|
45
|
(HPO:0001941)
|
Acidosis |
|
|
18067674
|
IBIS
|
9 / 7739
|
46
|
(HPO:0001369)
|
Arthritis |
|
|
18067674
|
IBIS
|
44 / 7739
|
47
|
(HPO:0005681)
|
Juvenile rheumatoid arthritis |
|
|
18067674
|
IBIS
|
2 / 7739
|
48
|
(HPO:0003487)
|
Babinski sign |
|
|
18067674
|
IBIS
|
179 / 7739
|
49
|
(HPO:0001935)
|
Microcytic anemia |
|
|
18067674
|
IBIS
|
32 / 7739
|
50
|
(HPO:0002036)
|
Hiatus hernia |
|
|
18067674
|
IBIS
|
24 / 7739
|
51
|
(HPO:0009088)
|
Speech articulation difficulties |
|
|
18067674
|
IBIS
|
4 / 7739
|
52
|
(HPO:0007166)
|
Paroxysmal dyskinesia |
|
|
18067674
|
IBIS
|
3 / 7739
|