|
1
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
2
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
3
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
4
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
5
|
(HPO:0001285)
|
Spastic tetraparesis |
|
|
|
|
29 / 7739
|
|
6
|
(HPO:0001345)
|
Psychotic mentation |
|
|
|
|
2 / 7739
|
|
7
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
|
8
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0001996)
|
Chronic metabolic acidosis |
|
|
|
|
3 / 7739
|
|
10
|
(HPO:0002080)
|
Intention tremor |
|
|
|
|
44 / 7739
|
|
11
|
(HPO:0003343)
|
Glutathione synthetase deficiency |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0200099)
|
Peripheral retinal pigmentation abnormalities |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Psychotic behavior |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Pyroglutamic acidemia |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Pyroglutamic aciduria |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Decreased erythrocyte glutathione |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Increased gamma-glutamyl-cysteine synthetase |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Neutrophil bactericidal and iodination defects responsive to vitamin E (alpha-tocopherol) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Mild hemolytic anemia |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Episodic neutropenia |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000580)
|
Pigmentary retinopathy |
|
|
|
|
49 / 7739
|