|
1
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0003777)
|
Pili torti |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
4
|
(HPO:0100777)
|
Exostoses |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
5
|
(HPO:0100720)
|
Hypoplasia of the ear cartilage |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
|
6
|
(HPO:0002225)
|
Sparse pubic hair |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
7
|
(HPO:0000153)
|
Abnormality of the mouth |
|
|
|
|
60 / 7739
|
|
8
|
(HPO:0000418)
|
Narrow nasal ridge |
|
|
|
|
15 / 7739
|
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0000964)
|
Eczema |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0000976)
|
Eczematoid dermatitis |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0001047)
|
Atopic dermatitis |
|
|
|
|
20 / 7739
|
|
14
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
15
|
(HPO:0001056)
|
Milia |
|
|
|
|
24 / 7739
|
|
16
|
(HPO:0001167)
|
Abnormality of finger |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
|
17
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
18
|
(HPO:0002208)
|
Coarse hair |
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0002671)
|
Basal cell carcinoma |
|
|
|
|
18 / 7739
|
|
20
|
(HPO:0003764)
|
Nevus |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0008069)
|
Neoplasm of the skin |
Frequent [Orphanet]
|
|
|
|
84 / 7739
|
|
22
|
(HPO:0009886)
|
Trichorrhexis nodosa |
|
|
|
|
12 / 7739
|
|
23
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
24
|
(OMIM)
|
Facial milia |
|
|
|
|
1 / 7739
|
|
25
|
(OMIM)
|
Facial hyperpigmentation |
|
|
|
|
1 / 7739
|
|
26
|
(OMIM)
|
Long thin nose |
|
|
|
|
2 / 7739
|
|
27
|
(OMIM)
|
Prominent columella |
|
|
|
|
4 / 7739
|
|
28
|
(OMIM)
|
Lingua plicata |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Follicular atrophoderma affecting the dorsa of the hands and feet, the face, and extensor surfaces of the elbows and knees |
|
|
|
|
1 / 7739
|
|
30
|
(OMIM)
|
'Ice-pick marks' |
|
|
|
|
1 / 7739
|
|
31
|
(OMIM)
|
Facial milia tend to disappear in adulthood |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0001051)
|
Seborrheic dermatitis |
|
|
|
|
25 / 7739
|
|
33
|
(HPO:0001061)
|
Acne |
|
|
|
|
33 / 7739
|
|
34
|
(MedDRA:10066295)
|
Keratosis pilaris |
|
|
|
|
11 / 7739
|
|
35
|
(OMIM)
|
Hypohidrosis, localized, often on face |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Trichoepithelioma (brown, flat-topped papules) (rare) |
|
|
|
|
2 / 7739
|
|
37
|
(OMIM)
|
Hidradenitis suppurativa (rare) |
|
|
|
|
1 / 7739
|
|
38
|
(OMIM)
|
Dry coarse hair |
|
|
|
|
2 / 7739
|
|
39
|
(OMIM)
|
Hair shaft abnormalities |
|
|
|
|
1 / 7739
|
|
40
|
(OMIM)
|
Basocellular neoplasms |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Basocellular neoplasms develop after second decade |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0400004)
|
Long ear |
Occasional [Orphanet]
|
|
|
|
94 / 7739
|
|
43
|
(HPO:0200102)
|
Sparse or absent eyelashes |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
44
|
(HPO:0001031)
|
Subcutaneous lipoma |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
45
|
(HPO:0001423)
|
X-linked dominant inheritance |
|
|
|
|
69 / 7739
|
|
46
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|