|
1
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
2
|
(HPO:0000597)
|
Ophthalmoparesis |
Frequent [Orphanet]
|
|
|
|
71 / 7739
|
|
3
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0000298)
|
Mask-like facies |
Frequent [Orphanet]
|
|
|
|
44 / 7739
|
|
6
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
|
7
|
(HPO:0002093)
|
Respiratory insufficiency |
Frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
8
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
9
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
10
|
(HPO:0001315)
|
Reduced tendon reflexes |
Frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
11
|
(HPO:0001250)
|
Seizures |
Frequent [Orphanet]
|
|
|
|
1245 / 7739
|
|
12
|
(HPO:0003457)
|
EMG abnormality |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
13
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
14
|
(HPO:0001048)
|
Cavernous hemangioma |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
15
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
16
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
17
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
18
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
19
|
(HPO:0000275)
|
Narrow face |
|
|
|
|
76 / 7739
|
|
20
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
21
|
(HPO:0000467)
|
Neck muscle weakness |
|
|
|
|
29 / 7739
|
|
22
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
23
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
24
|
(HPO:0001410)
|
Decreased liver function |
|
|
|
|
59 / 7739
|
|
25
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
26
|
(HPO:0001561)
|
Polyhydramnios |
|
|
|
|
191 / 7739
|
|
27
|
(HPO:0002021)
|
Pyloric stenosis |
|
|
|
|
51 / 7739
|
|
28
|
(HPO:0002375)
|
Hypokinesia |
|
|
|
|
25 / 7739
|
|
29
|
(HPO:0002643)
|
Neonatal respiratory distress |
|
|
|
|
22 / 7739
|
|
30
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
31
|
(HPO:0003517)
|
Birth length greater than 97th percentile |
|
|
|
|
4 / 7739
|
|
32
|
(HPO:0004887)
|
Respiratory failure requiring assisted ventilation |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0006829)
|
Severe muscular hypotonia |
|
|
|
|
29 / 7739
|
|
34
|
(HPO:0009110)
|
Diaphragmatic eventration |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
36
|
(HPO:0011308)
|
Slender toe |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Increased birth length |
|
|
|
|
3 / 7739
|
|
38
|
(OMIM)
|
Narrow, elongated face |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Respiratory failure often resulting in ventilator dependency |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Atrophic, thin diaphragm |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Elevated hemidiaphragm in symptomatic carrier females |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Fatal liver hemorrhage |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Unilateral skeletal asymmetry (arm and leg) in symptomatic carrier females |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Slender, long digits |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Generalized muscle weakness also seen in symptomatic carrier females |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Muscle biopsy shows small fibers with central nuclei and accumulation of mitochondria in the central part of the fibers |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Muscle fibers appear as fetal myotubules |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Muscle fibers are immunoreactive for desmin and vimentin |
|
|
|
|
1 / 7739
|
|
49
|
(MedDRA:10051004)
|
Floppy infant |
|
|
|
|
5 / 7739
|
|
50
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
51
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
52
|
(HPO:0011420)
|
Death |
Frequent [Orphanet]
|
|
|
|
184 / 7739
|
|
53
|
(HPO:0030089)
|
Abnormal muscle fiber protein expression |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
54
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|