|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
4
|
(HPO:0000473)
|
Torticollis |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
6
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
8
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
9
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
10
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
11
|
(HPO:0001533)
|
Slender build |
|
|
|
|
11 / 7739
|
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
15
|
(HPO:0002783)
|
Recurrent lower respiratory tract infections |
|
|
|
|
8 / 7739
|
|
16
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
17
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
18
|
(HPO:0002877)
|
Nocturnal hypoventilation |
|
|
|
|
9 / 7739
|
|
19
|
(HPO:0003306)
|
Spinal rigidity |
|
|
|
|
30 / 7739
|
|
20
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
21
|
(HPO:0003700)
|
Generalized amyotrophy |
|
|
|
|
39 / 7739
|
|
22
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
23
|
(HPO:0003713)
|
Muscle fiber necrosis |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0003803)
|
Type 1 muscle fiber predominance |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0005072)
|
Hyperextensibility at wrists |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0006149)
|
Increased laxity of fingers |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0006460)
|
Increased laxity of ankles |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0007502)
|
Follicular hyperkeratosis |
|
|
|
|
12 / 7739
|
|
29
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
|
|
28 / 7739
|
|
30
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
31
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
32
|
(OMIM)
|
Low weight due to poor feeding |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Facial weakness, mild |
|
|
|
|
6 / 7739
|
|
34
|
(OMIM)
|
Neck weakness |
|
|
|
|
3 / 7739
|
|
35
|
(OMIM)
|
Respiratory insufficiency due to muscle weakness often requiring ventilatory assistance |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Proximal joint contractures |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Distal joint laxity |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Long, thin limbs |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Calcaneal protrusion |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Muscle weakness, proximal greater than distal |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Delayed ambulation |
|
|
|
|
2 / 7739
|
|
42
|
(OMIM)
|
Some patients never achieve ambulation |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Muscle biopsy shows increased variation in fiber size |
|
|
|
|
2 / 7739
|
|
44
|
(OMIM)
|
Muscle biopsy shows type 1 fiber predominance |
|
|
|
|
2 / 7739
|
|
45
|
(OMIM)
|
Muscle biopsy shows merosin (156225)-positive muscle fibers |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Absence of collagen VI immunostaining |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Increased endo- and perimysial connective tissue |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Muscle fiber regeneration |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
50
|
(OMIM)
|
Decreased or absent reflexes due to muscle weakness |
|
|
|
|
1 / 7739
|
|
51
|
(OMIM)
|
Normal to mildly increased serum creatine kinase |
|
|
|
|
2 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
53
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
54
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
55
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|
|
56
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
57
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|