1
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
2
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
3
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
4
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
5
|
(HPO:0000447)
|
Pear-shaped nose |
|
|
|
|
5 / 7739
|
6
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
7
|
(HPO:0000684)
|
Delayed eruption of teeth |
|
|
|
|
117 / 7739
|
8
|
(HPO:0000689)
|
Dental malocclusion |
|
|
|
|
114 / 7739
|
9
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
10
|
(HPO:0000768)
|
Pectus carinatum |
|
|
|
|
136 / 7739
|
11
|
(HPO:0000938)
|
Osteopenia |
|
|
|
|
138 / 7739
|
12
|
(HPO:0001598)
|
Concave nail |
|
|
|
|
14 / 7739
|
13
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
14
|
(HPO:0001816)
|
Thin nail |
|
|
|
|
11 / 7739
|
15
|
(HPO:0001820)
|
Leukonychia |
|
|
|
|
18 / 7739
|
16
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
17
|
(HPO:0002217)
|
Slow-growing hair |
|
|
|
|
22 / 7739
|
18
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
20
|
(HPO:0002758)
|
Osteoarthritis |
|
|
|
|
78 / 7739
|
21
|
(HPO:0005059)
|
Arthralgia/arthritis |
|
|
|
|
141 / 7739
|
22
|
(HPO:0002805)
|
Accelerated bone age after puberty |
|
|
|
|
3 / 7739
|
23
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
24
|
(HPO:0003279)
|
Coxa magna |
|
|
|
|
3 / 7739
|
25
|
(HPO:0003307)
|
Hyperlordosis |
|
|
|
|
122 / 7739
|
26
|
(HPO:0003691)
|
Scapular winging |
|
|
|
|
51 / 7739
|
27
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
28
|
(HPO:0005743)
|
Avascular necrosis of the capital femoral epiphysis |
|
|
|
|
17 / 7739
|
29
|
(HPO:0006253)
|
Swelling of proximal interphalangeal joints |
|
|
|
|
3 / 7739
|
30
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
31
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
32
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
33
|
(HPO:0010252)
|
Ivory epiphyses of the distal phalanges of the hand |
|
|
|
|
2 / 7739
|
34
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
35
|
(OMIM)
|
Birth length normal |
|
|
|
|
15 / 7739
|
36
|
(HPO:0001530)
|
Mild postnatal growth retardation |
|
|
|
|
7 / 7739
|
37
|
(OMIM)
|
Prominent, long philtrum |
|
|
|
|
1 / 7739
|
38
|
(OMIM)
|
Horizontal groove on chin |
|
|
|
|
1 / 7739
|
39
|
(HPO:0000535)
|
Sparse and thin eyebrow |
|
|
|
|
76 / 7739
|
40
|
(HPO:0001379)
|
Degenerative joint disease |
|
|
|
|
8 / 7739
|
41
|
(OMIM)
|
Flattened capital femoral epiphyses |
|
|
|
|
5 / 7739
|
42
|
(OMIM)
|
Cone-shaped epiphyses of middle and proximal phalanges (2nd, 3rd, 4th fingers) |
|
|
|
|
1 / 7739
|
43
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
44
|
(OMIM)
|
Deep voice |
|
|
|
|
1 / 7739
|