|
1
|
(HPO:0000989)
|
Pruritus |
|
|
|
|
111 / 7739
|
|
2
|
(HPO:0003777)
|
Pili torti |
rare [HPO:skoehler]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0007502)
|
Follicular hyperkeratosis |
|
|
|
|
12 / 7739
|
|
4
|
(HPO:0010783)
|
Erythema |
|
|
|
|
138 / 7739
|
|
5
|
(OMIM)
|
Follicular hyperkeratosis of occipital scalp, nape of neck, and extensor surfaces of upper limbs |
|
|
|
|
1 / 7739
|
|
6
|
(OMIM)
|
Erythema in affected areas |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Pruritus in affected areas |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Abnormal hair follicles with thin, atrophic shafts |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Hair shafts often coiled within skin |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Marked swelling of precortical region |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Elliptical nodes (in some patients) |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Trichoschisis (in some patients) |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Tapered hair |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Fragile hair that breaks easily |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Short, sparse hair on scalp |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Eyebrows and eyelashes may be sparse |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Beard, axillary, and pubic hair usually normal |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
19
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
20
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0001006)
|
Hypotrichosis |
|
|
|
|
219 / 7739
|
|
22
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|