1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [HPO:probinson]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000556)
|
Retinal dystrophy |
Rare [HPO:probinson]
|
|
|
|
65 / 7739
|
3
|
(HPO:0001135)
|
Chorioretinal dystrophy |
|
|
|
|
18 / 7739
|
4
|
(HPO:0007731)
|
Chorioretinal dysplasia |
|
|
|
|
16 / 7739
|
5
|
(HPO:0007973)
|
Retinal dysplasia |
|
|
|
|
27 / 7739
|
6
|
(HPO:0000572)
|
Visual loss |
Rare [HPO:probinson]
|
|
|
|
272 / 7739
|
7
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
8
|
(HPO:0000712)
|
Emotional lability |
|
|
|
|
44 / 7739
|
9
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
10
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
11
|
(HPO:0001263)
|
Global developmental delay |
50% [HPO]
|
|
|
|
853 / 7739
|
12
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
13
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
14
|
(HPO:0001878)
|
Hemolytic anemia |
60% [HPO:probinson]
|
|
|
|
83 / 7739
|
15
|
(HPO:0001923)
|
Reticulocytosis |
|
|
|
|
28 / 7739
|
16
|
(HPO:0002076)
|
Migraine |
|
|
|
|
41 / 7739
|
17
|
(HPO:0003198)
|
Myopathy |
45% [HPO:probinson]
|
|
|
|
151 / 7739
|
18
|
(HPO:0003201)
|
Rhabdomyolysis |
|
|
|
|
27 / 7739
|
19
|
(HPO:0003546)
|
Exercise intolerance |
|
|
|
|
62 / 7739
|
20
|
(HPO:0003710)
|
Exercise-induced muscle cramps |
|
|
|
|
11 / 7739
|
21
|
(HPO:0008305)
|
Exercise-induced myoglobinuria |
|
|
|
|
7 / 7739
|
22
|
(OMIM)
|
Renal failure may occur with myoglobinuria |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Myopathy in approximately 45% of patients |
|
|
|
|
1 / 7739
|
24
|
(OMIM)
|
[DEL]Muscle cramps with exercise |
|
|
|
|
4 / 7739
|
25
|
(OMIM)
|
Central nervous system involvement in approximately 50% of patients |
|
|
|
|
1 / 7739
|
26
|
(MedDRA:10019476)
|
Hemiplegic migraine |
|
|
|
|
2 / 7739
|
27
|
(OMIM)
|
Hemolytic anemia in approximately 60% of patients |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Myoglobinuria after exertion |
|
|
|
|
1 / 7739
|
29
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
30
|
(OMIM)
|
Increased serum bilirubin |
|
|
|
|
4 / 7739
|
31
|
(OMIM)
|
Decreased activity of phosphoglycerate kinase 1 |
|
|
|
|
1 / 7739
|
32
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
33
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|