|
1
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
2
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
3
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
4
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
5
|
(HPO:0000706)
|
Unerupted tooth |
|
|
|
|
10 / 7739
|
|
6
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0000992)
|
Cutaneous photosensitivity |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
9
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
10
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
11
|
(HPO:0001640)
|
Cardiomegaly |
|
|
|
|
81 / 7739
|
|
12
|
(HPO:0001650)
|
Aortic valve stenosis |
|
|
|
|
49 / 7739
|
|
13
|
(HPO:0001682)
|
Subaortic stenosis |
|
|
|
|
17 / 7739
|
|
14
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
|
15
|
(HPO:0001762)
|
Talipes equinovarus |
|
|
|
|
309 / 7739
|
|
16
|
(HPO:0001806)
|
Onycholysis |
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0002205)
|
Recurrent respiratory infections |
|
|
|
|
254 / 7739
|
|
18
|
(HPO:0002515)
|
Waddling gait |
|
|
|
|
56 / 7739
|
|
19
|
(HPO:0002673)
|
Coxa valga |
|
|
|
|
57 / 7739
|
|
20
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
21
|
(HPO:0002857)
|
Genu valgum |
|
|
|
|
144 / 7739
|
|
22
|
(HPO:0003182)
|
Shallow acetabular fossae |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
24
|
(HPO:0004325)
|
Decreased body weight |
|
|
|
|
492 / 7739
|
|
25
|
(HPO:0004380)
|
Aortic valve calcification |
|
|
|
|
5 / 7739
|
|
26
|
(HPO:0004382)
|
Mitral valve calcification |
|
|
|
|
5 / 7739
|
|
27
|
(HPO:0005303)
|
Aortic arch calcification |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0006112)
|
Expanded phalanges with widened medullary cavities |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0006232)
|
Expanded metacarpals with widened medullary cavities |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0006353)
|
Hypoplasia of the tooth germ |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0006386)
|
Hypoplastic distal radial epiphyses |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0008102)
|
Expanded metatarsals with widened medullary cavities |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0009771)
|
Osteolytic defects of the phalanges of the hand |
|
|
|
|
17 / 7739
|
|
34
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
35
|
(HPO:0004962)
|
Thoracic aorta calcification |
|
|
|
|
1 / 7739
|
|
36
|
(OMIM)
|
Talipes tquinovarus |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Psoriasiform skin lesions |
|
|
|
|
2 / 7739
|
|
38
|
(OMIM)
|
Dry, scaly skin |
|
|
|
|
3 / 7739
|
|
39
|
(OMIM)
|
Nonspecific muscle fiber atrophy |
|
|
|
|
1 / 7739
|
|
40
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
41
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
43
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
44
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
45
|
(HPO:0009890)
|
High anterior hairline |
|
|
|
|
10 / 7739
|
|
46
|
(HPO:0030043)
|
Hip Subluxation |
|
|
|
|
9 / 7739
|
|
47
|
(HPO:0100550)
|
Tendon rupture |
|
|
|
|
17 / 7739
|