1
|
(HPO:0001178)
|
Ulnar claw |
|
|
|
|
8 / 7739
|
2
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
3
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
4
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
5
|
(HPO:0001765)
|
Hammertoe |
|
|
|
|
63 / 7739
|
6
|
(HPO:0002460)
|
Distal muscle weakness |
|
|
|
|
122 / 7739
|
7
|
(HPO:0002936)
|
Distal sensory impairment |
|
|
|
|
96 / 7739
|
8
|
(HPO:0003376)
|
Steppage gait |
|
|
|
|
41 / 7739
|
9
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
10
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
|
|
118 / 7739
|
11
|
(HPO:0006006)
|
Hypotrophy of the small hand muscles |
|
|
|
|
4 / 7739
|
12
|
(HPO:0009027)
|
Foot dorsiflexor weakness |
|
|
|
|
45 / 7739
|
13
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
14
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
15
|
(HPO:0001822)
|
Hallux valgus |
|
|
|
|
70 / 7739
|
16
|
(HPO:0001838)
|
Rocker bottom foot |
|
|
|
|
85 / 7739
|
17
|
(HPO:0001760)
|
Abnormality of the foot |
|
|
|
|
96 / 7739
|
18
|
(OMIM)
|
Distal limb muscle atrophy due to peripheral neuropathy |
|
|
|
|
48 / 7739
|
19
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
20
|
(OMIM)
|
Normal or mildly decreased motor nerve conduction velocities (NCV) |
|
|
|
|
15 / 7739
|
21
|
(OMIM)
|
Nerve biopsy shows axonopathy |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Giant axons with accumulation of disorganized neurofilaments |
|
|
|
|
1 / 7739
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
24
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
|
|
356 / 7739
|
25
|
(HPO:0000508)
|
Ptosis |
rare [HPO:skoehler]
|
|
|
|
459 / 7739
|
26
|
(HPO:0001270)
|
Motor delay |
rare [HPO:skoehler]
|
|
|
|
322 / 7739
|
27
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
28
|
(HPO:0002650)
|
Scoliosis |
rare [HPO:skoehler]
|
|
|
|
705 / 7739
|
29
|
(HPO:0003798)
|
Nemaline bodies |
rare [HPO:skoehler]
|
|
|
|
12 / 7739
|
30
|
(HPO:0009025)
|
Increased connective tissue |
rare [HPO:skoehler]
|
|
|
|
11 / 7739
|
31
|
(HPO:0010628)
|
Facial palsy |
rare [HPO:skoehler]
|
|
|
|
146 / 7739
|