1
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
3
|
(HPO:0000775)
|
Abnormality of the diaphragm |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
4
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Occasional [Orphanet]
|
|
|
|
38 / 7739
|
5
|
(HPO:0000952)
|
Jaundice |
|
|
|
|
105 / 7739
|
6
|
(HPO:0001081)
|
Cholelithiasis |
|
|
|
|
36 / 7739
|
7
|
(HPO:0001082)
|
Cholecystitis |
|
|
|
|
9 / 7739
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
9
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
10
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
11
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
12
|
(HPO:0001895)
|
Normochromic anemia |
|
|
|
|
7 / 7739
|
13
|
(HPO:0001897)
|
Normocytic anemia |
|
|
|
|
7 / 7739
|
14
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
15
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Very frequent [Orphanet]
|
|
|
|
148 / 7739
|
16
|
(OMIM)
|
Degenerative neurologic disorder with spasticity |
|
|
|
|
1 / 7739
|
17
|
(OMIM)
|
Triosephosphate isomerase deficiency |
|
|
|
|
1 / 7739
|
18
|
(OMIM)
|
In vitro autohemolysis not corrected by added glucose |
|
|
|
|
1 / 7739
|
19
|
(OMIM)
|
Normal osmotic fragility |
|
|
|
|
3 / 7739
|
20
|
(OMIM)
|
Increased red cell dihydroxyacetone phosphate (DHAP) |
|
|
|
|
1 / 7739
|
21
|
(HPO:0001930)
|
Nonspherocytic hemolytic anemia |
|
|
|
|
10 / 7739
|
22
|
(HPO:0001638)
|
Cardiomyopathy |
Occasional [Orphanet]
|
|
|
|
192 / 7739
|
23
|
(HPO:0012638)
|
Abnormality of nervous system physiology |
Very frequent [Orphanet]
|
|
|
|
12 / 7739
|
24
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
25
|
(HPO:0000543)
|
Optic disc pallor |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
26
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
27
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
28
|
(HPO:0001332)
|
Dystonia |
|
|
|
|
197 / 7739
|
29
|
(HPO:0001337)
|
Tremor |
|
|
|
|
200 / 7739
|
30
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
31
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
32
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
33
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|