|
1
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
2
|
(HPO:0000970)
|
Anhidrosis |
Occasional [HPO]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0001226)
|
Acral ulceration and osteomyelitis leading to autoamputation of digits |
|
|
|
|
4 / 7739
|
|
4
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
5
|
(HPO:0001862)
|
Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) |
|
|
|
|
2 / 7739
|
|
6
|
(HPO:0001954)
|
Episodic fever |
rare [HPO]
|
|
|
|
27 / 7739
|
|
7
|
(HPO:0002661)
|
Painless fractures due to injury |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0007021)
|
Pain insensitivity |
|
|
|
|
35 / 7739
|
|
9
|
(OMIM)
|
Accidental injury and ulceration of the lips and tongue due to decreased sensation |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Acral ulcers |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Anhidrosis, patchy, in some patients |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Pain insensitivity, distal |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Temperature insensitivity, distal, in some patients |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Normal large myelinated fiber sensory modalities |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Normal reflexes |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Sural nerve biopsy shows selective decrease in small myelinated fibers |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Mild reduction in unmyelinated fibers |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Increased body temperature, episodic, in some patients |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|