|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
3
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Occasional [Orphanet]
|
|
|
|
524 / 7739
|
|
5
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
6
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
7
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
8
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
9
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
10
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
11
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
12
|
(HPO:0000767)
|
Pectus excavatum |
Occasional [Orphanet]
|
|
|
|
244 / 7739
|
|
13
|
(HPO:0000405)
|
Conductive hearing impairment |
Occasional [Orphanet]
|
|
|
|
164 / 7739
|
|
14
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
15
|
(HPO:0000283)
|
Broad face |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
17
|
(HPO:0000384)
|
Preauricular skin tag |
|
|
|
|
62 / 7739
|
|
18
|
(HPO:0000410)
|
Mixed hearing impairment |
|
|
|
|
22 / 7739
|
|
19
|
(HPO:0000455)
|
Broad nasal tip |
|
|
|
|
67 / 7739
|
|
20
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
21
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
22
|
(HPO:0001763)
|
Pes planus |
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0002091)
|
Restrictive ventilatory defect |
|
|
|
|
46 / 7739
|
|
24
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
|
25
|
(HPO:0002650)
|
Scoliosis |
|
|
|
|
705 / 7739
|
|
26
|
(HPO:0002656)
|
Epiphyseal dysplasia |
|
|
|
|
25 / 7739
|
|
27
|
(HPO:0002750)
|
Delayed skeletal maturation |
|
|
|
|
250 / 7739
|
|
28
|
(HPO:0002948)
|
Vertebral fusion |
|
|
|
|
28 / 7739
|
|
29
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
30
|
(HPO:0003305)
|
Block vertebrae |
|
|
|
|
7 / 7739
|
|
31
|
(HPO:0003311)
|
Hypoplasia of the odontoid process |
|
|
|
|
34 / 7739
|
|
32
|
(HPO:0003422)
|
Vertebral segmentation defect |
Very frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
33
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
34
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
35
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
36
|
(HPO:0007961)
|
Rarefaction of retinal pigmentation |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0008368)
|
Tarsal synostosis |
|
|
|
|
21 / 7739
|
|
38
|
(HPO:0008456)
|
C2-C3 subluxation |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
40
|
(OMIM)
|
Round, broad face |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Narrowing of retinal vessels |
|
|
|
|
3 / 7739
|
|
42
|
(HPO:0000463)
|
Anteverted nares |
|
|
|
|
305 / 7739
|
|
43
|
(OMIM)
|
Broad, square nasal tip |
|
|
|
|
1 / 7739
|
|
44
|
(OMIM)
|
Unilateral unsegmented bar |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Bilateral proximal femoral epiphyseal dysplasia |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Decreased range of motion at elbows |
|
|
|
|
1 / 7739
|
|
47
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
48
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|