|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
3
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
6
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
7
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
8
|
(HPO:0000580)
|
Pigmentary retinopathy |
rare [HPO:skoehler]
|
|
|
|
49 / 7739
|
|
9
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
10
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
11
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
12
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
13
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
14
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
15
|
(HPO:0001712)
|
Left ventricular hypertrophy |
rare [HPO:skoehler]
|
|
|
|
76 / 7739
|
|
16
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
17
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
18
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
19
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
20
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
21
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
22
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
23
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
24
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
25
|
(HPO:0003560)
|
Muscular dystrophy |
|
|
|
|
88 / 7739
|
|
26
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
27
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
28
|
(OMIM)
|
Stiff, hyperextended neck |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Hypotonia, congenital |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0003712)
|
Skeletal muscle hypertrophy |
|
|
|
|
42 / 7739
|
|
31
|
(OMIM)
|
Muscle biopsy shows decreased glycosylation of alpha-dystroglycan |
|
|
|
|
9 / 7739
|
|
32
|
(OMIM)
|
Lack of speech development |
|
|
|
|
20 / 7739
|
|
33
|
(OMIM)
|
Patients may only achieve sitting or walking |
|
|
|
|
1 / 7739
|
|
34
|
(OMIM)
|
Flat pons |
|
|
|
|
1 / 7739
|
|
35
|
(HPO:0002518)
|
Abnormality of the periventricular white matter |
|
|
|
|
24 / 7739
|
|
36
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
37
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
38
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|