|
1
|
(HPO:0000224)
|
Decreased taste sensation |
|
|
|
|
6 / 7739
|
|
2
|
(HPO:0001069)
|
Episodic hyperhidrosis |
|
|
|
|
4 / 7739
|
|
3
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
4
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
5
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
6
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
7
|
(HPO:0001818)
|
Paronychia |
|
|
|
|
6 / 7739
|
|
8
|
(HPO:0002020)
|
Gastroesophageal reflux |
|
|
|
|
101 / 7739
|
|
9
|
(HPO:0002661)
|
Painless fractures due to injury |
|
|
|
|
5 / 7739
|
|
10
|
(HPO:0003448)
|
Decreased sensory nerve conduction velocity |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0006121)
|
Acral ulceration leading to autoamputation of digits |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
13
|
(OMIM)
|
Impaired corneal reflex |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0011968)
|
Feeding difficulties |
|
|
|
|
240 / 7739
|
|
15
|
(OMIM)
|
Neurogenic joint degeneration |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Anhidrosis, patchy |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Ulcerations of distal extremities |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Muscle strength and bulk is preserved |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Impaired sensation in distal extremities (pain, temperature, position, touch) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Lower limbs more affected than upper limbs |
|
|
|
|
5 / 7739
|
|
21
|
(OMIM)
|
Trunk may be involved later |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Impaired gag reflex |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
24
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
25
|
(OMIM)
|
Sural nerve biopsy shows severe loss of myelinated fibers |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Some loss of unmyelinated fibers |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Absence of cutaneous sensory receptors and fibers |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Autonomic involvement does not always occur |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Decreased axonal flare response after intradermal histamine injection |
|
|
|
|
1 / 7739
|