|
1
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
3
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
4
|
(HPO:0000276)
|
Long face |
rare [HPO:skoehler]
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0001260)
|
Dysarthria |
|
|
|
|
329 / 7739
|
|
9
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
10
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
11
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
12
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
13
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
14
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
rare [HPO:skoehler]
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
17
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
19
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
rare [HPO:skoehler]
|
|
|
|
48 / 7739
|
|
20
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
21
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
22
|
(HPO:0003327)
|
Axial muscle weakness |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
24
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0003687)
|
Centrally nucleated skeletal muscle fibers |
|
|
|
|
15 / 7739
|
|
26
|
(HPO:0003691)
|
Scapular winging |
rare [HPO:skoehler]
|
|
|
|
51 / 7739
|
|
27
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
28
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
29
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
30
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
31
|
(OMIM)
|
Thin hands with long fingers (1 patient) |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
33
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
34
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
35
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
36
|
(OMIM)
|
Muscle weakness, predominantly proximal |
|
|
|
|
4 / 7739
|
|
37
|
(OMIM)
|
Distal muscle weakness may occur |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Muscle biopsy shows centralized nuclei |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Myofibrillar disorganization |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Type 1 fiber predominance |
|
|
|
|
9 / 7739
|
|
41
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
42
|
(OMIM)
|
EMG may showed myotonic discharges |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Decremental response to repetitive stimulation at neuromuscular junction |
|
|
|
|
1 / 7739
|
|
44
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
45
|
(HPO:0003674)
|
Onset |
|
|
|
|
32 / 7739
|