|
1
|
(HPO:0001848)
|
Calcaneovalgus deformity |
|
|
|
|
12 / 7739
|
|
2
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
3
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0002522)
|
Areflexia of lower limbs |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0002600)
|
Hyporeflexia of lower limbs |
|
|
|
|
13 / 7739
|
|
6
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
7
|
(HPO:0002804)
|
Arthrogryposis multiplex congenita |
|
|
|
|
93 / 7739
|
|
8
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
|
9
|
(HPO:0003487)
|
Babinski sign |
|
|
|
|
179 / 7739
|
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
|
11
|
(HPO:0006903)
|
Congenital peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Dislocation of the hip |
|
|
|
|
2 / 7739
|
|
13
|
(OMIM)
|
Limited hip flexion |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Limited joint flexion |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Equinus |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Equinovalgus |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Proximal muscle weakness, less severe |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Muscle biopsy showed myopathic changes |
|
|
|
|
5 / 7739
|
|
19
|
(OMIM)
|
Denervation |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Abnormal axons with sprouting and swelling |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
23
|
(OMIM)
|
No sensory defects |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
25
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|
|
26
|
(HPO:0003680)
|
Nonprogressive disorder |
|
|
|
|
23 / 7739
|