|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
4
|
(HPO:0000298)
|
Mask-like facies |
|
|
|
|
44 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001276)
|
Hypertonia |
rare [HPO:skoehler]
|
|
|
|
317 / 7739
|
|
8
|
(HPO:0001283)
|
Bulbar palsy |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
10
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
11
|
(HPO:0001347)
|
Hyperreflexia |
rare [HPO:skoehler]
|
|
|
|
363 / 7739
|
|
12
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
13
|
(HPO:0001533)
|
Slender build |
|
|
|
|
11 / 7739
|
|
14
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
16
|
(HPO:0001644)
|
Dilated cardiomyopathy |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
17
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
18
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
19
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
20
|
(HPO:0002063)
|
Rigidity |
rare [HPO:skoehler]
|
|
|
|
92 / 7739
|
|
21
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
22
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
23
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
24
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
25
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
26
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
27
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
28
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
29
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
30
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
31
|
(HPO:0003690)
|
Limb muscle weakness |
|
|
|
|
41 / 7739
|
|
32
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
33
|
(HPO:0003722)
|
Neck flexor weakness |
|
|
|
|
13 / 7739
|
|
34
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
35
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
36
|
(HPO:0003810)
|
Late-onset distal muscle weakness |
|
|
|
|
4 / 7739
|
|
37
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
38
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
39
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
40
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|