|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
6
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
|
7
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
|
8
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
|
9
|
(OMIM)
|
Distal muscle atrophy, lower limbs more severely affected than upper limbs |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Distal muscle weakness, lower limbs more severely affected than upper limbs |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Proximal muscle weakness, lower limbs, mild |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Areflexia of the upper and lower limbs |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Decreased amplitudes of motor nerves in the lower limbs seen on nerve conduction studies |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Dysphonia, mild (1 patient) |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
16
|
(HPO:0003677)
|
Slow progression |
|
|
|
|
134 / 7739
|
|
17
|
(HPO:0007269)
|
Spinal muscular atrophy |
|
|
|
|
24 / 7739
|