|
1
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
2
|
(HPO:0001271)
|
Polyneuropathy |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
6
|
(HPO:0006904)
|
Late-onset spinocerebellar degeneration |
|
|
|
|
1 / 7739
|
|
7
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|
|
8
|
(OMIM)
|
Glutathione deficiency |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Gamma-glutamylcysteine deficiency |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Gamma-glutamylcysteine synthetase (glutamate-cysteine ligase) deficiency |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|