|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
rare [HPO:skoehler]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
|
4
|
(HPO:0001488)
|
Bilateral ptosis |
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0006136)
|
Bilateral postaxial polydactyly |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0000518)
|
Cataract |
rare [HPO:skoehler]
|
|
|
|
454 / 7739
|
|
7
|
(HPO:0000639)
|
Nystagmus |
rare [HPO:skoehler]
|
|
|
|
555 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
12
|
(HPO:0001344)
|
Absent speech |
|
|
|
|
57 / 7739
|
|
13
|
(HPO:0001371)
|
Flexion contracture |
rare [HPO:skoehler]
|
|
|
|
220 / 7739
|
|
14
|
(HPO:0001558)
|
Decreased fetal movement |
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0001657)
|
Prolonged QT interval |
rare [HPO:skoehler]
|
|
|
|
33 / 7739
|
|
16
|
(HPO:0002058)
|
Myopathic facies |
|
|
|
|
26 / 7739
|
|
17
|
(HPO:0002421)
|
Poor head control |
|
|
|
|
23 / 7739
|
|
18
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
19
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
20
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
21
|
(HPO:0010697)
|
Anterior pyramidal cataract |
|
|
|
|
22 / 7739
|
|
22
|
(OMIM)
|
Left ventricular dilatation (1 patient) |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
24
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
25
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
26
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
27
|
(OMIM)
|
Muscle weakness, severe |
|
|
|
|
3 / 7739
|
|
28
|
(OMIM)
|
Generalized muscle wasting |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
30
|
(OMIM)
|
Dystrophic features seen on muscle biopsy |
|
|
|
|
2 / 7739
|
|
31
|
(OMIM)
|
Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy |
|
|
|
|
3 / 7739
|
|
32
|
(OMIM)
|
Mental retardation, mild to severe |
|
|
|
|
14 / 7739
|
|
33
|
(OMIM)
|
Delayed or absent independent walking |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
37
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|