|
1
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
3
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
4
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
5
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0003797)
|
Limb-girdle muscle atrophy |
|
|
|
|
8 / 7739
|
|
7
|
(OMIM)
|
Hypotonia. Proximal muscle weakness. Limb-girdle myopathy. |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Normal basal metabolic rate. |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Cytochemical and EM muscle studies show large, bizarre mitochondria but normal mitochondria in vascular smooth muscle, leukocytes, and intramyal nerves. |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|