|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
6
|
(HPO:0000478)
|
Abnormality of the eye |
|
|
|
|
126 / 7739
|
|
7
|
(HPO:0000954)
|
Single transverse palmar crease |
|
|
|
|
162 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
12
|
(HPO:0001591)
|
Bell-shaped thorax |
|
|
|
|
35 / 7739
|
|
13
|
(HPO:0002751)
|
Kyphoscoliosis |
|
|
|
|
131 / 7739
|
|
14
|
(HPO:0002792)
|
Reduced vital capacity |
|
|
|
|
17 / 7739
|
|
15
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
16
|
(HPO:0003202)
|
Skeletal muscle atrophy |
|
|
|
|
281 / 7739
|
|
17
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
18
|
(HPO:0003327)
|
Axial muscle weakness |
|
|
|
|
10 / 7739
|
|
19
|
(HPO:0003557)
|
Increased variability in muscle fiber diameter |
|
|
|
|
24 / 7739
|
|
20
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
21
|
(HPO:0003787)
|
Type 1 and type 2 muscle fiber minicore regions |
|
|
|
|
3 / 7739
|
|
22
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
23
|
(HPO:0009466)
|
Radial deviation of finger |
|
|
|
|
101 / 7739
|
|
24
|
(OMIM)
|
Oblique palpebral fissures |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
26
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
27
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
28
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
29
|
(OMIM)
|
Merosin-positive biopsy |
|
|
|
|
5 / 7739
|
|
30
|
(OMIM)
|
Type 1 and type 2 muscle fibers with 'minicore' regions of sarcomeric disorganization, lack of oxidative activity, and absent mitochondria |
|
|
|
|
5 / 7739
|
|
31
|
(OMIM)
|
Minicore regions are poorly defined and do not extend through entire fiber length |
|
|
|
|
5 / 7739
|
|
32
|
(OMIM)
|
Dystrophic changes may be present |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
34
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|