|
1
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
3
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
4
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
6
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
7
|
(HPO:0002047)
|
Malignant hyperthermia |
Occasional [HPO:skoehler]
|
|
|
|
20 / 7739
|
|
8
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
9
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
10
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
11
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
12
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
13
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
14
|
(OMIM)
|
Type 1 muscle fibers with clearly demarcated central 'core' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Cores contain densely packed myofilaments |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Cores have abrupt borders within normal regions of the muscle fiber |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Cores extend along length of muscle fiber |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Changes in sarcoplasmic reticulum and t-tubules |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Increased internal nuclei in skeletal muscle fibers |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Nemaline rods may be observed |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
22
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
23
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
24
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
25
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|
|
26
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|