1
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Frequent [Orphanet]
|
|
|
|
105 / 7739
|
2
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
3
|
(HPO:0000233)
|
Thin vermilion border |
Frequent [Orphanet]
|
|
|
|
124 / 7739
|
4
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
5
|
(HPO:0000356)
|
Abnormality of the outer ear |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
6
|
(HPO:0001658)
|
Myocardial infarction |
|
|
|
|
30 / 7739
|
7
|
(HPO:0001681)
|
Angina pectoris |
|
|
|
|
22 / 7739
|
8
|
(HPO:0000444)
|
Convex nasal ridge |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
9
|
(HPO:0000275)
|
Narrow face |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
10
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
11
|
(HPO:0001596)
|
Alopecia |
Very frequent [Orphanet]
|
|
|
|
162 / 7739
|
12
|
(HPO:0005059)
|
Arthralgia/arthritis |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
13
|
(HPO:0009741)
|
Nephrosclerosis |
Occasional [Orphanet]
|
|
|
|
2 / 7739
|
14
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
15
|
(HPO:0000963)
|
Thin skin |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
16
|
(HPO:0002621)
|
Atherosclerosis |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
17
|
(HPO:0004416)
|
Precocious atherosclerosis |
|
|
|
|
12 / 7739
|
18
|
(HPO:0100679)
|
Lack of skin elasticity |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
19
|
(HPO:0000520)
|
Proptosis |
Very frequent [Orphanet]
|
|
|
|
192 / 7739
|
20
|
(HPO:0001608)
|
Abnormality of the voice |
Frequent [Orphanet]
|
|
|
|
126 / 7739
|
21
|
(HPO:0002797)
|
Osteolysis |
Frequent [Orphanet]
|
|
16838330
|
IBIS
|
68 / 7739
|
22
|
(HPO:0000239)
|
Large fontanelles |
Frequent [Orphanet]
|
|
|
|
135 / 7739
|
23
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
24
|
(HPO:0002225)
|
Sparse pubic hair |
Very frequent [Orphanet]
|
|
|
|
76 / 7739
|
25
|
(HPO:0007495)
|
Prematurely aged appearance |
Very frequent [Orphanet]
|
|
|
|
44 / 7739
|
26
|
(HPO:0000929)
|
Abnormality of the skull |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
27
|
(HPO:0002652)
|
Skeletal dysplasia |
Occasional [Orphanet]
|
|
|
|
113 / 7739
|
28
|
(HPO:0000684)
|
Delayed eruption of teeth |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
29
|
(HPO:0100678)
|
Premature skin wrinkling |
Frequent [Orphanet]
|
|
|
|
25 / 7739
|
30
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
31
|
(HPO:0001063)
|
Acrocyanosis |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
32
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
33
|
(HPO:0006660)
|
Aplastic clavicles |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
34
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
35
|
(HPO:0009125)
|
Lipodystrophy |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
36
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
37
|
(HPO:0001231)
|
Abnormality of the fingernails |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
38
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
39
|
(HPO:0001677)
|
Coronary artery disease |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
40
|
(HPO:0001800)
|
Hypoplastic toenails |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
41
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
42
|
(HPO:0005181)
|
Premature coronary artery disease |
|
|
|
|
5 / 7739
|
43
|
(HPO:0040160)
|
Generalized osteoporosis |
|
|
|
|
7 / 7739
|
44
|
(HPO:0007485)
|
Absence of subcutaneous fat |
|
|
|
|
6 / 7739
|
45
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
46
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
47
|
(OMIM)
|
Postnatal onset growth retardation |
|
|
|
|
1 / 7739
|
48
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
49
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
50
|
(HPO:0001522)
|
Death in infancy |
Very frequent [Orphanet]
|
|
|
|
275 / 7739
|
51
|
(HPO:0040064)
|
Abnormality of limbs |
Frequent [Orphanet]
|
|
|
|
16 / 7739
|
52
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
53
|
(HPO:0000606)
|
Abnormality of the periorbital region |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
54
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
55
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|