|
1
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
2
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
|
|
51 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0002136)
|
Broad-based gait |
|
|
|
|
30 / 7739
|
|
5
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
6
|
(HPO:0003380)
|
Decreased number of peripheral myelinated nerve fibers |
|
|
|
|
30 / 7739
|
|
7
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
8
|
(OMIM)
|
Slight build |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Atrophy of the small muscles in the hands and feet |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Delayed walking |
|
|
|
|
13 / 7739
|
|
11
|
(OMIM)
|
Muscle weakness and atrophy, upper and lower limbs |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Inability to walk on heels |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Slow motor nerve conduction velocities |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Decreased sensory and motor nerve amplitudes |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Sural nerve biopsy shows nonspecific axonal degeneration |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Accumulation of neurofilaments within axons |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Swollen myelinated fibers |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
20
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|