|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
3
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
4
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
5
|
(OMIM)
|
Childhood myopathy |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Proximal muscle weakness and wasting |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Prolonged episodes of flaccid paralysis |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Increased numbers of large mitochondria aligned with lipid bodies in skeletal muscle fibers |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
10
|
(HPO:0030083)
|
Salt craving |
|
|
|
|
2 / 7739
|