|
1
|
(HPO:0000457)
|
Depressed nasal ridge |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
2
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
5
|
(HPO:0000966)
|
Hypohidrosis |
|
|
|
|
41 / 7739
|
|
6
|
(HPO:0002046)
|
Heat intolerance |
|
|
|
|
13 / 7739
|
|
7
|
(HPO:0004370)
|
Abnormality of temperature regulation |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
8
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
9
|
(HPO:0000691)
|
Microdontia |
Very frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
10
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
11
|
(HPO:0100651)
|
Type I diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
44 / 7739
|
|
12
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
|
13
|
(HPO:0002223)
|
Absent eyebrow |
|
|
|
|
21 / 7739
|
|
14
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
|
15
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
16
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
19
|
(HPO:0000607)
|
Periorbital wrinkles |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
21
|
(HPO:0000668)
|
Hypodontia |
|
|
|
|
81 / 7739
|
|
22
|
(HPO:0000679)
|
Taurodontia |
|
|
|
|
27 / 7739
|
|
23
|
(HPO:0000698)
|
Conical tooth |
|
|
|
|
14 / 7739
|
|
24
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
25
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
26
|
(HPO:0000964)
|
Eczema |
|
|
|
|
81 / 7739
|
|
27
|
(HPO:0000970)
|
Anhidrosis |
|
|
|
|
24 / 7739
|
|
28
|
(HPO:0000977)
|
Soft skin |
|
|
|
|
23 / 7739
|
|
29
|
(HPO:0001106)
|
Periorbital hyperpigmentation |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
|
31
|
(HPO:0001609)
|
Hoarse voice |
|
|
|
|
34 / 7739
|
|
32
|
(HPO:0001618)
|
Dysphonia |
|
|
|
|
28 / 7739
|
|
33
|
(HPO:0001945)
|
Fever |
|
|
|
|
218 / 7739
|
|
34
|
(HPO:0002299)
|
Brittle hair |
|
|
|
|
52 / 7739
|
|
35
|
(HPO:0002557)
|
Hypoplastic nipples |
|
|
|
|
33 / 7739
|
|
36
|
(HPO:0006709)
|
Aplasia/Hypoplasia of the nipples |
|
|
|
|
28 / 7739
|
|
37
|
(HPO:0002561)
|
Absent nipple |
|
|
|
|
12 / 7739
|
|
38
|
(HPO:0002880)
|
Respiratory difficulties |
|
|
|
|
15 / 7739
|
|
39
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
40
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
41
|
(HPO:0007411)
|
Hypoplastic-absent sebaceous glands |
|
|
|
|
1 / 7739
|
|
42
|
(HPO:0007592)
|
Aplasia/Hypoplastia of the eccrine sweat glands |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0010803)
|
Everted upper lip vermilion |
|
|
|
|
4 / 7739
|
|
44
|
(HPO:0011830)
|
Abnormality of oral mucosa |
|
|
|
|
47 / 7739
|
|
45
|
(OMIM)
|
Small cranial length |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Small facial height |
|
|
|
|
1 / 7739
|
|
47
|
(OMIM)
|
Absent tears |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Absent miebomian glands |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Scant-absent eyebrows |
|
|
|
|
1 / 7739
|
|
50
|
(OMIM)
|
Scant-absent eyelashes |
|
|
|
|
1 / 7739
|
|
51
|
(MedDRA:10051208)
|
Nasal mucosa atrophy |
|
|
|
|
1 / 7739
|
|
52
|
(OMIM)
|
Ozena |
|
|
|
|
1 / 7739
|
|
53
|
(OMIM)
|
Decreased palatal depth |
|
|
|
|
1 / 7739
|
|
54
|
(OMIM)
|
Prominent lips |
|
|
|
|
7 / 7739
|
|
55
|
(OMIM)
|
Adontia |
|
|
|
|
1 / 7739
|
|
56
|
(MedDRA:10039088)
|
Rhinitis atrophic |
|
|
|
|
1 / 7739
|
|
57
|
(OMIM)
|
Atrophic pharyngeal mucosa |
|
|
|
|
1 / 7739
|
|
58
|
(OMIM)
|
Hypoplastic or absent mucous glands which may lead to dried secretions and obstruction |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Atrophic mucosa causing dysphonia |
|
|
|
|
1 / 7739
|
|
60
|
(OMIM)
|
Hypoplastic-absent mammary glands |
|
|
|
|
1 / 7739
|
|
61
|
(OMIM)
|
Sweat pore aplasia |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Soft thin skin |
|
|
|
|
3 / 7739
|
|
63
|
(OMIM)
|
Mild localized pigmentation abnormalities |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Skin peeling/scaling (newborn) |
|
|
|
|
1 / 7739
|
|
65
|
(OMIM)
|
Fine, brittle hair |
|
|
|
|
2 / 7739
|
|
66
|
(OMIM)
|
Scanty hair |
|
|
|
|
1 / 7739
|
|
67
|
(OMIM)
|
Absent or scanty eyelashes |
|
|
|
|
1 / 7739
|
|
68
|
(OMIM)
|
Absent or scanty eyebrows |
|
|
|
|
1 / 7739
|
|
69
|
(OMIM)
|
Blonde, fine scalp hair |
|
|
|
|
1 / 7739
|
|
70
|
(OMIM)
|
Hoarse voice due to dry laryngeal mucosa |
|
|
|
|
1 / 7739
|
|
71
|
(OMIM)
|
Susceptible to hyperthermia |
|
|
|
|
2 / 7739
|
|
72
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
73
|
(HPO:0040075)
|
Hypopituitarism |
Occasional [Orphanet]
|
|
|
|
32 / 7739
|
|
74
|
(HPO:0000159)
|
Abnormality of the lip |
Very frequent [Orphanet]
|
|
|
|
33 / 7739
|
|
75
|
(HPO:0000232)
|
Everted lower lip vermilion |
|
|
|
|
90 / 7739
|
|
76
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
77
|
(HPO:0001425)
|
Heterogeneous |
|
|
|
|
132 / 7739
|
|
78
|
(HPO:0007607)
|
Hypohidrotic ectodermal dysplasia |
|
|
|
|
5 / 7739
|
|
79
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|