|
1
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
6
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
7
|
(HPO:0001840)
|
Metatarsus adductus |
|
|
|
|
49 / 7739
|
|
8
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
10
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
11
|
(HPO:0002936)
|
Distal sensory impairment |
rare [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
12
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
13
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0003555)
|
Muscle fiber splitting |
|
|
|
|
11 / 7739
|
|
15
|
(HPO:0003634)
|
Amyoplasia |
|
|
|
|
3 / 7739
|
|
16
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
|
17
|
(HPO:0003697)
|
Scapuloperoneal amyotrophy |
|
|
|
|
5 / 7739
|
|
18
|
(HPO:0007178)
|
Motor polyneuropathy |
|
|
|
|
31 / 7739
|
|
19
|
(HPO:0008955)
|
Progressive distal muscular atrophy |
|
|
|
|
2 / 7739
|
|
20
|
(HPO:0009049)
|
Peroneal muscle atrophy |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0009060)
|
Scapular muscle atrophy |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0009063)
|
Progressive distal muscle weakness |
|
|
|
|
4 / 7739
|
|
23
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|
|
24
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
25
|
(HPO:0011349)
|
Abducens palsy |
|
|
|
|
7 / 7739
|
|
26
|
(HPO:0011727)
|
Peroneal muscle weakness |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0200055)
|
Small hand |
|
|
|
|
71 / 7739
|
|
28
|
(OMIM)
|
Weak neck flexion |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Respiratory insufficiency in infancy |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Respiratory stridor in infancy |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Laryngeal palsy |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Rounded shoulders due to muscle atrophy |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Laterally placed scapulae |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Asymmetric limb length (less common) |
|
|
|
|
1 / 7739
|
|
35
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
36
|
(OMIM)
|
Amyotrophy, neurogenic |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Scapular muscle weakness |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Absence of some scapular muscles (less common) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Distal muscle weakness, upper and lower limbs |
|
|
|
|
4 / 7739
|
|
40
|
(OMIM)
|
Distal lower and upper limb muscle atrophy |
|
|
|
|
3 / 7739
|
|
41
|
(OMIM)
|
Muscle biopsy shows grouped atrophy |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Fatty replacement |
|
|
|
|
3 / 7739
|
|
43
|
(OMIM)
|
Increased endomysial fibrosis |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Marked variability of fiber size |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Many fibers with internal nuclei |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Atrophy of type 1 and type 2 fibers |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Hoarse voice due to laryngeal palsy |
|
|
|
|
1 / 7739
|
|
48
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
49
|
(HPO:0003829)
|
Incomplete penetrance |
|
|
|
|
85 / 7739
|
|
50
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|