|
1
|
(HPO:0010760)
|
Absent toe |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
2
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
|
3
|
(HPO:0000271)
|
Abnormality of the face |
Occasional [Orphanet]
|
|
|
|
108 / 7739
|
|
4
|
(HPO:0001770)
|
Toe syndactyly |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
5
|
(HPO:0200042)
|
Skin ulcer |
Very frequent [Orphanet]
|
|
|
|
138 / 7739
|
|
6
|
(HPO:0001596)
|
Alopecia |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
|
7
|
(HPO:0000164)
|
Abnormality of the teeth |
Very frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
8
|
(HPO:0000445)
|
Wide nose |
Occasional [Orphanet]
|
|
|
|
190 / 7739
|
|
9
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
10
|
(HPO:0002561)
|
Absent nipple |
|
|
|
|
12 / 7739
|
|
11
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
Frequent [Orphanet]
|
|
|
|
28 / 7739
|
|
12
|
(HPO:0000995)
|
Melanocytic nevus |
Very frequent [Orphanet]
|
|
|
|
63 / 7739
|
|
13
|
(HPO:0003187)
|
Breast hypoplasia |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0100783)
|
Breast aplasia |
Frequent [Orphanet]
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
16
|
(HPO:0001805)
|
Thick nail |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
17
|
(HPO:0001006)
|
Hypotrichosis |
Frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
18
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
19
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
20
|
(HPO:0006482)
|
Abnormality of dental morphology |
Frequent [Orphanet]
|
|
|
|
81 / 7739
|
|
21
|
(HPO:0007587)
|
Numerous pigmented freckles |
Very frequent [Orphanet]
|
|
|
|
22 / 7739
|
|
22
|
(HPO:0000958)
|
Dry skin |
Very frequent [Orphanet]
|
|
|
|
152 / 7739
|
|
23
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
24
|
(HPO:0000202)
|
Oral cleft |
|
|
|
|
120 / 7739
|
|
25
|
(HPO:0000509)
|
Conjunctivitis |
|
|
|
|
47 / 7739
|
|
26
|
(HPO:0000579)
|
Nasolacrimal duct obstruction |
|
|
|
|
9 / 7739
|
|
27
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
28
|
(HPO:0000677)
|
Oligodontia |
|
|
|
|
41 / 7739
|
|
29
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
30
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
31
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
|
|
46 / 7739
|
|
32
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
33
|
(HPO:0001171)
|
Split hand |
|
|
|
|
72 / 7739
|
|
34
|
(HPO:0001480)
|
Freckling |
|
|
|
|
13 / 7739
|
|
35
|
(HPO:0001803)
|
Nail pits |
|
|
|
|
17 / 7739
|
|
36
|
(HPO:0002215)
|
Sparse axillary hair |
|
|
|
|
21 / 7739
|
|
37
|
(HPO:0002286)
|
Fair hair |
|
|
|
|
20 / 7739
|
|
38
|
(HPO:0002293)
|
Alopecia of scalp |
|
|
|
|
9 / 7739
|
|
39
|
(HPO:0004334)
|
Dermal atrophy |
|
|
|
|
34 / 7739
|
|
40
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
41
|
(HPO:0006357)
|
Premature loss of permanent teeth |
|
|
|
|
2 / 7739
|
|
42
|
(HPO:0006610)
|
Wide intermamillary distance |
|
|
|
|
46 / 7739
|
|
43
|
(HPO:0007455)
|
Adermatoglyphia |
|
|
|
|
4 / 7739
|
|
44
|
(OMIM)
|
Dysplastic teeth |
|
|
|
|
3 / 7739
|
|
45
|
(OMIM)
|
Premature loss of secondary teeth |
|
|
|
|
3 / 7739
|
|
46
|
(OMIM)
|
Mammary gland hypoplasia |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0100257)
|
Ectrodactyly |
|
|
|
|
27 / 7739
|
|
48
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
49
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
50
|
(OMIM)
|
Premature scalp hair loss (>30 years) |
|
|
|
|
1 / 7739
|
|
51
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
52
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
53
|
(HPO:0001839)
|
Split foot |
|
|
|
|
28 / 7739
|