1
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
55 / 7739
|
2
|
(HPO:0100578)
|
Lipoatrophy |
Very frequent [Orphanet]
|
|
1488989; 6638067
|
IBIS
|
30 / 7739
|
3
|
(HPO:0000358)
|
Posteriorly rotated ears |
Very frequent [Orphanet]
hallmark [HPO]
|
|
6638067
|
IBIS
|
163 / 7739
|
4
|
(HPO:0000303)
|
Mandibular prognathia |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
179 / 7739
|
5
|
(HPO:0003187)
|
Breast hypoplasia |
Very frequent [Orphanet]
hallmark [HPO]
|
|
6638067
|
IBIS
|
17 / 7739
|
6
|
(HPO:0100783)
|
Breast aplasia |
Very frequent [Orphanet]
|
|
1488989; 6638067
|
IBIS
|
19 / 7739
|
7
|
(HPO:0000695)
|
Natal tooth |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
42 / 7739
|
8
|
(HPO:0005978)
|
Type II diabetes mellitus |
Very frequent [Orphanet]
|
|
1488989; 6638067
|
IBIS
|
68 / 7739
|
9
|
(HPO:0002215)
|
Sparse axillary hair |
Very frequent [Orphanet]
|
|
1488989; 6638067
|
IBIS
|
21 / 7739
|
10
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
76 / 7739
|
11
|
(HPO:0000319)
|
Smooth philtrum |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
72 / 7739
|
12
|
(HPO:0000437)
|
Depressed nasal tip |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
17 / 7739
|
13
|
(HPO:0000682)
|
Abnormality of dental enamel |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
102 / 7739
|
14
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
358 / 7739
|
15
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
1232 / 7739
|
16
|
(HPO:0004528)
|
Generalized hypotrichosis |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
18 / 7739
|
17
|
(HPO:0009912)
|
Abnormality of the tragus |
Very frequent [Orphanet]
|
|
6638067
|
IBIS
|
12 / 7739
|
18
|
(HPO:0000968)
|
Ectodermal dysplasia |
|
|
1488989
|
IBIS
|
46 / 7739
|
19
|
(HPO:0000958)
|
Dry skin |
|
|
1488989
|
IBIS
|
152 / 7739
|
20
|
(HPO:0008070)
|
Sparse hair |
|
|
1488989; 6638067
|
IBIS
|
94 / 7739
|
21
|
(HPO:0002217)
|
Slow-growing hair |
|
|
1488989
|
IBIS
|
22 / 7739
|
22
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
1488989
|
IBIS
|
291 / 7739
|
23
|
(HPO:0001231)
|
Abnormality of the fingernails |
|
|
1488989
|
IBIS
|
116 / 7739
|
24
|
(HPO:0000966)
|
Hypohidrosis |
|
|
1488989
|
IBIS
|
41 / 7739
|
25
|
(HPO:0002555)
|
Absent pubic hair |
|
|
1488989
|
IBIS
|
3 / 7739
|
26
|
(HPO:0000876)
|
Oligomenorrhea |
|
|
1488989
|
IBIS
|
13 / 7739
|
27
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
1488989; 6638067
|
IBIS
|
27 / 7739
|
28
|
(HPO:0000668)
|
Hypodontia |
|
|
1488989
|
IBIS
|
81 / 7739
|
29
|
(HPO:0000699)
|
Diastema |
|
|
1488989
|
IBIS
|
10 / 7739
|
30
|
(HPO:0011219)
|
Short face |
|
|
1488989
|
IBIS
|
1 / 7739
|
31
|
(HPO:0000271)
|
Abnormality of the face |
|
|
6638067
|
IBIS
|
108 / 7739
|
32
|
(HPO:0006481)
|
Abnormality of primary teeth |
|
|
6638067
|
IBIS
|
2 / 7739
|
33
|
(HPO:0008498)
|
No permanent dentition |
|
|
6638067
|
IBIS
|
2 / 7739
|
34
|
(HPO:0001518)
|
Small for gestational age |
|
|
6638067
|
IBIS
|
107 / 7739
|
35
|
(HPO:0004626)
|
Lumbar scoliosis |
|
|
6638067
|
IBIS
|
5 / 7739
|
36
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
6638067
|
IBIS
|
73 / 7739
|
37
|
(HPO:0100853)
|
Hypoplastic areola |
|
|
6638067
|
IBIS
|
3 / 7739
|
38
|
(HPO:0004404)
|
Abnormality of the nipple |
|
|
6638067
|
IBIS
|
54 / 7739
|
39
|
(HPO:0005914)
|
Aplasia/Hypoplasia involving the metacarpal bones |
|
|
6638067
|
IBIS
|
8 / 7739
|
40
|
(HPO:0002875)
|
Exertional dyspnea |
|
|
6638067
|
IBIS
|
29 / 7739
|
41
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
|
|
6638067
|
IBIS
|
72 / 7739
|
42
|
(HPO:0005214)
|
Intestinal obstruction |
|
|
6638067
|
IBIS
|
35 / 7739
|
43
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
6638067
|
IBIS
|
78 / 7739
|
44
|
(HPO:0004782)
|
Hypotrichosis of the scalp |
|
|
6638067
|
IBIS
|
7 / 7739
|
45
|
(HPO:0000366)
|
Abnormality of the nose |
|
|
6638067
|
IBIS
|
56 / 7739
|
46
|
(HPO:0011220)
|
Prominent forehead |
|
|
6638067
|
IBIS
|
137 / 7739
|
47
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
6638067
|
IBIS
|
121 / 7739
|
48
|
(HPO:0000506)
|
Telecanthus |
|
|
6638067
|
IBIS
|
156 / 7739
|
49
|
(HPO:0200006)
|
Slanting of the palpebral fissure |
|
|
6638067
|
IBIS
|
2 / 7739
|
50
|
(HPO:0000420)
|
Short nasal septum |
|
|
6638067
|
IBIS
|
4 / 7739
|
51
|
(HPO:0000188)
|
Short upper lip |
|
|
6638067
|
IBIS
|
8 / 7739
|
52
|
(HPO:0000674)
|
Anodontia |
|
|
6638067
|
IBIS
|
18 / 7739
|
53
|
(HPO:0001015)
|
Prominent superficial veins |
|
|
6638067
|
IBIS
|
7 / 7739
|
54
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
6638067
|
IBIS
|
309 / 7739
|
55
|
(HPO:0001763)
|
Pes planus |
|
|
6638067
|
IBIS
|
176 / 7739
|
56
|
(HPO:0000064)
|
Hypoplastic labia minora |
|
|
6638067
|
IBIS
|
7 / 7739
|
57
|
(HPO:0008665)
|
Clitoral hypertrophy |
|
|
6638067
|
IBIS
|
10 / 7739
|
58
|
(HPO:0000142)
|
Abnormality of the vagina |
|
|
6638067
|
IBIS
|
24 / 7739
|
59
|
(HPO:0005775)
|
Multiple skeletal anomalies |
|
|
6638067
|
IBIS
|
2 / 7739
|