|
1
|
(HPO:0000020)
|
Urinary incontinence |
|
|
|
|
75 / 7739
|
|
2
|
(HPO:0001069)
|
Episodic hyperhidrosis |
|
|
|
|
4 / 7739
|
|
3
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
4
|
(HPO:0001265)
|
Hyporeflexia |
|
|
|
|
208 / 7739
|
|
5
|
(HPO:0001284)
|
Areflexia |
|
|
|
|
198 / 7739
|
|
6
|
(HPO:0002754)
|
Osteomyelitis |
|
|
|
|
37 / 7739
|
|
7
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
|
|
62 / 7739
|
|
8
|
(HPO:0006121)
|
Acral ulceration leading to autoamputation of digits |
|
|
|
|
3 / 7739
|
|
9
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
10
|
(OMIM)
|
Impaired pupillary response to light |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Ulcerations of distal extremities |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Impaired sensation in distal extremities, particularly pain and temperature (lower limbs more affected than upper limbs) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Spasticity has been reported in 1 family |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Sural nerve biopsy shows axonal neuropathy |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Loss of small myelinated fibers |
|
|
|
|
1 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
17
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
18
|
(HPO:0003676)
|
Progressive disorder |
|
|
|
|
148 / 7739
|