|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003202)
|
Skeletal muscle atrophy |
Very frequent [Orphanet]
|
|
|
|
281 / 7739
|
|
3
|
(HPO:0001315)
|
Reduced tendon reflexes |
Very frequent [Orphanet]
|
|
|
|
160 / 7739
|
|
4
|
(HPO:0002571)
|
Achalasia |
Very frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
5
|
(HPO:0003457)
|
EMG abnormality |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
6
|
(HPO:0001063)
|
Acrocyanosis |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
7
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
|
8
|
(HPO:0001278)
|
Orthostatic hypotension |
|
|
|
|
24 / 7739
|
|
9
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
10
|
(HPO:0003323)
|
Progressive muscle weakness |
|
|
|
|
17 / 7739
|
|
11
|
(HPO:0011096)
|
Peripheral demyelination |
|
|
|
|
28 / 7739
|
|
12
|
(OMIM)
|
Nonspecific sural nerve demyelination |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Profuse sweating |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Distal cyanosis related to cold |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0001357)
|
Plagiocephaly |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0000975)
|
Hyperhidrosis |
|
|
|
|
64 / 7739
|
|
18
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
|
|
206 / 7739
|