|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000961)
|
Cyanosis |
|
|
|
|
60 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
7
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
8
|
(HPO:0001901)
|
Polycythemia |
|
|
|
|
16 / 7739
|
|
9
|
(HPO:0002179)
|
Opisthotonus |
|
|
|
|
35 / 7739
|
|
10
|
(HPO:0002315)
|
Headache |
|
|
|
|
175 / 7739
|
|
11
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
|
|
29 / 7739
|
|
12
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
13
|
(OMIM)
|
Myelination defects (type II) |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Type I - methemoglobin concentration 10-35% |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
NADH-cytochrome b(5) reductase deficiency |
|
|
|
|
2 / 7739
|