|
1
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
2
|
(HPO:0011073)
|
Abnormality of dental color |
Occasional [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0100679)
|
Lack of skin elasticity |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0000708)
|
Behavioral abnormality |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
5
|
(HPO:0007021)
|
Pain insensitivity |
Very frequent [Orphanet]
|
|
|
|
35 / 7739
|
|
6
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
7
|
(HPO:0001072)
|
Thickened skin |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
10
|
(HPO:0000491)
|
Keratitis |
|
|
|
|
21 / 7739
|
|
11
|
(HPO:0000495)
|
Recurrent corneal erosions |
|
|
|
|
20 / 7739
|
|
12
|
(HPO:0000559)
|
Corneal scarring |
|
|
|
|
9 / 7739
|
|
13
|
(HPO:0000712)
|
Emotional lability |
typical [HPO]
|
|
|
|
44 / 7739
|
|
14
|
(HPO:0000742)
|
Self-mutilation |
|
|
|
|
27 / 7739
|
|
15
|
(HPO:0000752)
|
Hyperactivity |
typical [HPO]
|
|
|
|
140 / 7739
|
|
16
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
17
|
(HPO:0001226)
|
Acral ulceration and osteomyelitis leading to autoamputation of digits |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0001954)
|
Episodic fever |
|
|
|
|
27 / 7739
|
|
19
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
20
|
(HPO:0002459)
|
Dysautonomia |
|
|
|
|
34 / 7739
|
|
21
|
(HPO:0002754)
|
Osteomyelitis |
|
|
|
|
37 / 7739
|
|
22
|
(HPO:0002821)
|
Neuropathic arthropathy |
|
|
|
|
2 / 7739
|
|
23
|
(HPO:0004782)
|
Hypotrichosis of the scalp |
|
|
|
|
7 / 7739
|
|
24
|
(HPO:0005307)
|
Postural hypotension with compensatory tachycardia |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0007249)
|
Decreased number of small peripheral myelinated nerve fibers |
|
|
|
|
1 / 7739
|
|
26
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
27
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
28
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
29
|
(OMIM)
|
Absent corneal sensation |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
Very poor corneal healing |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Neurotrophic keratitis |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
Normal lacrimation |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Accidental injury and ulceration of the lips and tongue due to decreased sensation |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0001862)
|
Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) |
|
|
|
|
2 / 7739
|
|
35
|
(OMIM)
|
Anhidrosis of the trunk and limbs 100% of the time |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Thick, calloused skin |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Lichenification of palms |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Pain insensitivity, diffuse (including to visceral pain) |
|
|
|
|
1 / 7739
|
|
39
|
(OMIM)
|
Temperature insensitivity, diffuse |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Markedly decreased small unmyelinated nerve fibers |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Decreased small myelinated nerve fibers |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Loss of sympathetic fibers innervating eccrine sweat glands |
|
|
|
|
1 / 7739
|
|
43
|
(OMIM)
|
Hyperactivity in 50% of patients |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Emotional lability in 50% of patients |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Susceptibility to rage in 50% of patients |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Fever, episodic, severe |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Fever is often the presenting symptom |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Delayed wound healing with normal immune system |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Accidental injury to the self (mouth, digits) has been referred to by some as 'self-mutilation' |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Absent axonal flare response to intradermal histamine injection |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
52
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
53
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
54
|
(HPO:0012804)
|
Corneal ulceration |
|
|
|
|
6 / 7739
|