|
1
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
2
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
3
|
(HPO:0003429)
|
CNS hypomyelination |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
5
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
6
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
7
|
(HPO:0006808)
|
Cerebral hypomyelination |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
9
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
10
|
(OMIM)
|
Severe cerebral and cerebellar atrophy |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Progressive muscle infiltration with fat cells |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Variable expression of merosin (156225) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Myopathic potentials on EMG |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Markedly decreased motor nerve conduction velocities |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Isoelectric central evoked potentials |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Almost complete absence of large diameter fibers but no signs of degeneration on sural nerve biopsy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Axial and limb muscle weakness |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|