|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
3
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
4
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
7
|
(HPO:0001644)
|
Dilated cardiomyopathy |
50 % [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
8
|
(HPO:0002465)
|
Poor speech |
|
|
|
|
31 / 7739
|
|
9
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
10
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
11
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
12
|
(HPO:0003391)
|
Gowers sign |
|
|
|
|
37 / 7739
|
|
13
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
14
|
(HPO:0008064)
|
Ichthyosis |
|
|
|
|
108 / 7739
|
|
15
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
16
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
17
|
(OMIM)
|
Muscle biopsy shows necrotic and regenerating fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Mitochondrial enlargement |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Mitochondria are placed at the periphery of muscle fibers |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Variation in fiber size |
|
|
|
|
8 / 7739
|
|
21
|
(OMIM)
|
Some patients never achieve independent ambulation |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0001427)
|
Mitochondrial inheritance |
|
|
|
|
12 / 7739
|
|
25
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
27
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|