|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000158)
|
Macroglossia |
|
|
|
|
119 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0001302)
|
Pachygyria |
rare [HPO:skoehler]
|
|
|
|
60 / 7739
|
|
7
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
|
|
101 / 7739
|
|
8
|
(HPO:0001771)
|
Achilles tendon contracture |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0002111)
|
Restrictive deficit on pulmonary function testing |
|
|
|
|
25 / 7739
|
|
10
|
(HPO:0002119)
|
Ventriculomegaly |
rare [HPO:skoehler]
|
|
|
|
253 / 7739
|
|
11
|
(HPO:0002194)
|
Delayed gross motor development |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0002350)
|
Cerebellar cyst |
|
|
|
|
14 / 7739
|
|
13
|
(HPO:0002355)
|
Difficulty walking |
|
|
|
|
61 / 7739
|
|
14
|
(HPO:0002359)
|
Frequent falls |
|
|
|
|
24 / 7739
|
|
15
|
(HPO:0002500)
|
Abnormality of the cerebral white matter |
|
|
|
|
73 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0002808)
|
Kyphosis |
|
|
|
|
289 / 7739
|
|
18
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
19
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
20
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
21
|
(HPO:0003324)
|
Generalized muscle weakness |
|
|
|
|
48 / 7739
|
|
22
|
(HPO:0003326)
|
Myalgia |
|
|
|
|
143 / 7739
|
|
23
|
(HPO:0003394)
|
Muscle cramps |
|
|
|
|
106 / 7739
|
|
24
|
(HPO:0003458)
|
EMG: myopathic abnormalities |
|
|
|
|
38 / 7739
|
|
25
|
(HPO:0003547)
|
Shoulder girdle muscle weakness |
|
|
|
|
21 / 7739
|
|
26
|
(HPO:0003551)
|
Difficulty climbing stairs |
|
|
|
|
23 / 7739
|
|
27
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
28
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
29
|
(HPO:0003724)
|
Shoulder girdle muscle atrophy |
|
|
|
|
14 / 7739
|
|
30
|
(HPO:0003733)
|
Thigh hypertrophy |
|
|
|
|
2 / 7739
|
|
31
|
(HPO:0003741)
|
Congenital muscular dystrophy |
|
|
|
|
22 / 7739
|
|
32
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|
|
33
|
(HPO:0007126)
|
Proximal amyotrophy |
|
|
|
|
29 / 7739
|
|
34
|
(HPO:0008872)
|
Feeding difficulties in infancy |
|
|
|
|
153 / 7739
|
|
35
|
(HPO:0008981)
|
Calf muscle hypertrophy |
|
|
|
|
28 / 7739
|
|
36
|
(HPO:0010628)
|
Facial palsy |
|
|
|
|
146 / 7739
|
|
37
|
(HPO:0040083)
|
Toe walking |
|
|
|
|
15 / 7739
|