|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
5
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
6
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
7
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
8
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
9
|
(HPO:0001349)
|
Facial diplegia |
|
|
|
|
16 / 7739
|
|
10
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
11
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
13
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
16
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
17
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
18
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
19
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
20
|
(HPO:0003798)
|
Nemaline bodies |
|
|
|
|
12 / 7739
|
|
21
|
(HPO:0008944)
|
Distal lower limb amyotrophy |
|
|
|
|
12 / 7739
|
|
22
|
(HPO:0009053)
|
Distal lower limb muscle weakness |
|
|
|
|
13 / 7739
|