1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
3
|
(HPO:0000325)
|
Triangular face |
Very frequent [Orphanet]
|
|
|
|
91 / 7739
|
4
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
5
|
(HPO:0000768)
|
Pectus carinatum |
Frequent [Orphanet]
|
|
|
|
136 / 7739
|
6
|
(HPO:0001252)
|
Muscular hypotonia |
Frequent [Orphanet]
|
|
|
|
990 / 7739
|
7
|
(HPO:0001597)
|
Abnormality of the nail |
Frequent [Orphanet]
|
|
|
|
115 / 7739
|
8
|
(HPO:0002007)
|
Frontal bossing |
Very frequent [Orphanet]
|
|
|
|
366 / 7739
|
9
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
10
|
(HPO:0003307)
|
Hyperlordosis |
Frequent [Orphanet]
|
|
|
|
122 / 7739
|
11
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
12
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
13
|
(HPO:0005105)
|
Abnormal nasal morphology |
Very frequent [Orphanet]
|
|
|
|
114 / 7739
|
14
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
15
|
(HPO:0010579)
|
Cone-shaped epiphysis |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
16
|
(HPO:0011069)
|
Increased number of teeth |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
17
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
18
|
(HPO:0100840)
|
Aplasia/Hypoplasia of the eyebrow |
Very frequent [Orphanet]
|
|
|
|
117 / 7739
|
19
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
20
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
21
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
22
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
23
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
24
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
25
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
26
|
(HPO:0400004)
|
Long ear |
Very frequent [Orphanet]
|
|
|
|
94 / 7739
|
27
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
28
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
29
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
30
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
31
|
(HPO:0000447)
|
Pear-shaped nose |
|
|
|
|
5 / 7739
|
32
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
33
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
34
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
35
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
36
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
37
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
38
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
39
|
(HPO:0001816)
|
Thin nail |
|
|
|
|
11 / 7739
|
40
|
(HPO:0001820)
|
Leukonychia |
|
|
|
|
18 / 7739
|
41
|
(HPO:0002002)
|
Deep philtrum |
|
|
|
|
42 / 7739
|
42
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
43
|
(HPO:0002213)
|
Fine hair |
|
|
|
|
77 / 7739
|
44
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
45
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
46
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
47
|
(HPO:0002805)
|
Accelerated bone age after puberty |
|
|
|
|
3 / 7739
|
48
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
49
|
(HPO:0003279)
|
Coxa magna |
|
|
|
|
3 / 7739
|
50
|
(HPO:0003370)
|
Flat capital femoral epiphysis |
|
|
|
|
15 / 7739
|
51
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
52
|
(HPO:0005338)
|
Sparse lateral eyebrow |
|
|
|
|
21 / 7739
|
53
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
54
|
(HPO:0006253)
|
Swelling of proximal interphalangeal joints |
|
|
|
|
3 / 7739
|
55
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
56
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
57
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
58
|
(HPO:0010252)
|
Ivory epiphyses of the distal phalanges of the hand |
|
|
|
|
2 / 7739
|
59
|
(HPO:0010259)
|
Cone-shaped epiphyses of the middle phalanges of the hand |
|
|
|
|
4 / 7739
|
60
|
(HPO:0010270)
|
Cone-shaped epiphyses of the proximal phalanges of the hand |
|
|
|
|
1 / 7739
|
61
|
(HPO:0010300)
|
Abnormally low-pitched voice |
|
|
|
|
2 / 7739
|
62
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
63
|
(HPO:0011823)
|
Chin with horizontal crease |
|
|
|
|
1 / 7739
|