|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001878)
|
Hemolytic anemia |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0002922)
|
Increased CSF protein |
|
|
|
|
27 / 7739
|
|
4
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
5
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0004818)
|
Paroxysmal nocturnal hemoglobinuria |
|
|
1699124
|
IBIS
|
4 / 7739
|
|
7
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
8
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
9
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
10
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
11
|
(OMIM)
|
Limb muscle weakness, upper and lower |
|
|
|
|
3 / 7739
|
|
12
|
(OMIM)
|
Muscle atrophy, progressive |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Hand and foot weakness |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Chronic immune-mediated polyneuropathy |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Limb paralysis |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Sensory and motor demyelination seen on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Secondary axonal damage |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Absence of CD59 expression on red cells |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|