|
1
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000300)
|
Oval face |
|
|
|
|
5 / 7739
|
|
4
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
5
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
8
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
9
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
10
|
(HPO:0001989)
|
Fetal akinesia sequence |
|
|
|
|
14 / 7739
|
|
11
|
(HPO:0002033)
|
Poor suck |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0002304)
|
Akinesia |
|
|
|
|
18 / 7739
|
|
13
|
(HPO:0002747)
|
Respiratory insufficiency due to muscle weakness |
|
|
|
|
48 / 7739
|
|
14
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
15
|
(HPO:0010557)
|
Overlapping fingers |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
|
17
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
18
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
19
|
(OMIM)
|
Reduced muscle mass |
|
|
|
|
4 / 7739
|
|
20
|
(OMIM)
|
Skeletal muscle biopsy shows minor variation in fiber size |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Disruption of sarcomeres with disorganization of the Z band |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Decreased mitochondria |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Decreased or patchy amounts of alpha-dystrobrevin and beta-2-syntrophin at the sarcolemma |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
No spontaneous movements |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Absent Moro reflex |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
27
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
28
|
(OMIM)
|
Normal serum creatine kinase |
|
|
|
|
12 / 7739
|
|
29
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
30
|
(HPO:0001522)
|
Death in infancy |
|
|
|
|
275 / 7739
|