|
1
|
(HPO:0009830)
|
Peripheral neuropathy |
Very frequent [Orphanet]
|
|
|
|
206 / 7739
|
|
2
|
(HPO:0006824)
|
Cranial nerve paralysis |
Occasional [Orphanet]
|
|
|
|
81 / 7739
|
|
3
|
(HPO:0001761)
|
Pes cavus |
Occasional [Orphanet]
|
|
|
|
225 / 7739
|
|
4
|
(HPO:0003134)
|
Abnormality of peripheral nerve conduction |
Very frequent [Orphanet]
|
|
|
|
38 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0010488)
|
Aplasia/Hypoplasia of the palmar creases |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
7
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
8
|
(HPO:0001315)
|
Reduced tendon reflexes |
Occasional [Orphanet]
|
|
|
|
160 / 7739
|
|
9
|
(HPO:0001608)
|
Abnormality of the voice |
Occasional [Orphanet]
|
|
|
|
126 / 7739
|
|
10
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
11
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
12
|
(HPO:0001605)
|
Vocal cord paralysis |
|
|
|
|
13 / 7739
|
|
13
|
(HPO:0003431)
|
Decreased motor nerve conduction velocity |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0003481)
|
Segmental peripheral demyelination/remyelination |
|
|
|
|
12 / 7739
|
|
15
|
(OMIM)
|
Peroneal muscle weakness, transient, recurrent due to peripheral neuropathy |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Radial, ulnar, and median nerve muscles may be affected |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Vocal cord paralysis has been reported |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Tomacula (sausage-shaped swellings of the myelin sheath) on nerve biopsy |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Segmental demyelination/remyelination on nerve biopsy |
|
|
|
|
9 / 7739
|
|
20
|
(HPO:0003220)
|
Abnormality of chromosome stability |
Very frequent [Orphanet]
|
|
|
|
98 / 7739
|
|
21
|
(HPO:0011442)
|
Abnormality of central motor function |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
22
|
(HPO:0000763)
|
Sensory neuropathy |
Frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|