|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0000767)
|
Pectus excavatum |
|
|
|
|
244 / 7739
|
|
4
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
9
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
10
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
|
12
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
13
|
(HPO:0002015)
|
Dysphagia |
|
|
|
|
301 / 7739
|
|
14
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
15
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
16
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
17
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
18
|
(HPO:0006597)
|
Diaphragmatic paralysis |
|
|
|
|
16 / 7739
|
|
19
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
21
|
(HPO:0100490)
|
Camptodactyly of finger |
|
|
|
|
212 / 7739
|
|
22
|
(OMIM)
|
Neck weakness |
|
|
|
|
3 / 7739
|
|
23
|
(OMIM)
|
Neck contractures |
|
|
|
|
2 / 7739
|
|
24
|
(OMIM)
|
Ventilator dependency (in some) |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0009113)
|
Diaphragmatic weakness |
|
|
|
|
12 / 7739
|
|
26
|
(OMIM)
|
Eventration of diaphragm |
|
|
|
|
4 / 7739
|
|
27
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
28
|
(OMIM)
|
Weakness, axial and limb muscles, upper limb muscles more affected than lower limbs |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Myopathic changes seen on EMG of affected muscle |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Small and incompletely fused muscle fibers seen on biopsy |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
32
|
(OMIM)
|
Fiber necrosis |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Fatty replacement |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Minicores (in some) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Focal areas of Z-band disarray devoid of mitochondria seen on electron microscopy |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
37
|
(OMIM)
|
Some may not achieve ambulation |
|
|
|
|
1 / 7739
|
|
38
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
39
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
40
|
(HPO:0002878)
|
Respiratory failure |
|
|
|
|
57 / 7739
|
|
41
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
42
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|