|
1
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
|
2
|
(HPO:0001082)
|
Cholecystitis |
|
|
|
|
9 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
7
|
(HPO:0001930)
|
Nonspherocytic hemolytic anemia |
|
|
|
|
10 / 7739
|
|
8
|
(HPO:0003568)
|
Decreased glucosephosphate isomerase activity |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0005525)
|
Spontaneous hemolytic crises |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0010871)
|
Sensory ataxia |
|
|
|
|
7 / 7739
|
|
11
|
(HPO:0011981)
|
Pigment gallstones |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0011993)
|
Impaired neutrophil bactericidal activity |
|
|
4076245
|
IBIS
|
3 / 7739
|
|
13
|
(OMIM)
|
Mixed sensory and cerebellar ataxia |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal osmotic fragility |
|
|
|
|
3 / 7739
|
|
15
|
(OMIM)
|
Reduced leukocyte superoxide anion production |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Reduced leukocyte bactericidal activity |
|
|
|
|
1 / 7739
|
|
17
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|