|
1
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
2
|
(HPO:0000654)
|
Decreased light- and dark-adapted electroretinogram amplitude |
|
|
|
|
17 / 7739
|
|
3
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
4
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
5
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
8
|
(HPO:0001302)
|
Pachygyria |
|
|
|
|
60 / 7739
|
|
9
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0002187)
|
Intellectual disability, profound |
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0002269)
|
Abnormality of neuronal migration |
|
|
|
|
10 / 7739
|
|
13
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
|
14
|
(HPO:0002395)
|
Lower limb hyperreflexia |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0002987)
|
Elbow flexion contracture |
|
|
|
|
64 / 7739
|
|
17
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
18
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
19
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
20
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
21
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
22
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
23
|
(HPO:0009473)
|
Joint contracture of the hand |
|
|
|
|
84 / 7739
|
|
24
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
25
|
(OMIM)
|
Facial weakness, mild |
|
|
|
|
6 / 7739
|
|
26
|
(OMIM)
|
Elbow contractures, mild |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Achilles tendon contractures, mild |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Flexed fingers |
|
|
|
|
3 / 7739
|
|
29
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
30
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
31
|
(OMIM)
|
Muscle weakness, predominantly proximal |
|
|
|
|
4 / 7739
|
|
32
|
(OMIM)
|
Lower limbs more affected than upper limbs |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Acquire ability to walk and jump in childhood, but motor regression occurs later |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
35
|
(OMIM)
|
[DEL]EMG shows myopathic changes |
|
|
|
|
27 / 7739
|
|
36
|
(OMIM)
|
Decreased glycosylation of alpha-dystroglycan |
|
|
|
|
6 / 7739
|
|
37
|
(OMIM)
|
Mental retardation, moderate to profound |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Periventricular white matter changes |
|
|
|
|
7 / 7739
|
|
39
|
(OMIM)
|
Pachygyria, frontoparietal |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
41
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
42
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|