1
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
2
|
(HPO:0000713)
|
Agitation |
|
|
|
|
18 / 7739
|
3
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
4
|
(HPO:0001083)
|
Ectopia lentis |
|
|
|
|
45 / 7739
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
8
|
(HPO:0001266)
|
Choreoathetosis |
|
|
|
|
57 / 7739
|
9
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
10
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
11
|
(HPO:0002301)
|
Hemiplegia |
|
|
|
|
42 / 7739
|
12
|
(HPO:0003359)
|
Decreased urinary sulfate |
|
|
|
|
2 / 7739
|
13
|
(HPO:0003643)
|
Sulfite oxidase deficiency |
|
|
|
|
2 / 7739
|
14
|
(HPO:0007325)
|
Generalized dystonia |
|
|
|
|
7 / 7739
|
15
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
16
|
(HPO:0011942)
|
Increased urinary sulfite |
|
|
|
|
2 / 7739
|
17
|
(OMIM)
|
Delayed teething |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
Mild eczema |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Infantile hemiplegia |
|
|
|
|
1 / 7739
|
20
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
21
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
23
|
(OMIM)
|
Restlessness, agitation, crying under stress |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
Decreased sulfite oxidase activity in fibroblasts |
|
|
|
|
1 / 7739
|
25
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
26
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|