|
1
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
|
2
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
3
|
(HPO:0003445)
|
EMG: neuropathic changes |
|
|
|
|
21 / 7739
|
|
4
|
(HPO:0003474)
|
Sensory impairment |
|
|
|
|
54 / 7739
|
|
5
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|
|
6
|
(HPO:0008956)
|
Proximal lower limb amyotrophy |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0008994)
|
Proximal muscle weakness in lower limbs |
|
|
|
|
11 / 7739
|
|
8
|
(HPO:0009046)
|
Difficulty running |
|
|
|
|
17 / 7739
|
|
9
|
(HPO:0010602)
|
Type 2 muscle fiber predominance |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0011808)
|
Decreased patellar reflex |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
12
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
13
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
14
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
15
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
16
|
(OMIM)
|
Muscle weakness, symmetric, proximal, lower limbs |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Lower limb muscle atrophy |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Hip abductor weakness and atrophy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
EMG shows chronic denervation |
|
|
|
|
3 / 7739
|
|
20
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
21
|
(OMIM)
|
Difficulty running and climbing stairs |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Muscle weakness, proximal, symmetric (lower limbs more affected than upper limbs) due to motor neuronopathy |
|
|
|
|
5 / 7739
|
|
23
|
(OMIM)
|
Cognitive delay, mild (1 patient) |
|
|
|
|
1 / 7739
|
|
24
|
(OMIM)
|
No sensory impairment |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
26
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
27
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|