|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
3
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
4
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
5
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
8
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
9
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
12
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
|
14
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
|
|
13 / 7739
|
|
15
|
(OMIM)
|
Restricted vital capacity |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal neonatal period may occur before weakness is apparent |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Independent walking may not be achieved |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
19
|
(OMIM)
|
Muscle biopsy shows subsarcolemmal nemaline bodies (rods) on Gomori trichrome staining |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Nemaline bodies occur in type 1 fibers |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Both type 1 and type 2 fiber predominance has been reported |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Cap structures, when present, contain disorganized myofibrils and thickened Z bands |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Delayed motor development due to muscle weakness |
|
|
|
|
1 / 7739
|