|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
3
|
(HPO:0004327)
|
Abnormality of the vitreous humor |
Very frequent [Orphanet]
|
|
|
|
14 / 7739
|
|
4
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0002098)
|
Respiratory distress |
|
|
|
|
75 / 7739
|
|
7
|
(HPO:0002758)
|
Osteoarthritis |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
8
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
9
|
(HPO:0000926)
|
Platyspondyly |
Very frequent [Orphanet]
|
|
|
|
150 / 7739
|
|
10
|
(HPO:0002779)
|
Tracheomalacia |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0002777)
|
Tracheal stenosis |
Occasional [Orphanet]
|
|
|
|
35 / 7739
|
|
12
|
(HPO:0005257)
|
Thoracic hypoplasia |
Very frequent [Orphanet]
|
|
|
|
79 / 7739
|
|
13
|
(HPO:0100625)
|
Enlarged thorax |
Very frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
14
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
15
|
(HPO:0000520)
|
Proptosis |
Frequent [Orphanet]
|
|
|
|
192 / 7739
|
|
16
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
|
17
|
(HPO:0001385)
|
Hip dysplasia |
Frequent [Orphanet]
|
|
|
|
242 / 7739
|
|
18
|
(HPO:0002812)
|
Coxa vara |
|
|
|
|
58 / 7739
|
|
19
|
(HPO:0002827)
|
Hip dislocation |
|
|
|
|
94 / 7739
|
|
20
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
21
|
(HPO:0000162)
|
Glossoptosis |
Occasional [Orphanet]
|
|
|
|
26 / 7739
|
|
22
|
(HPO:0000518)
|
Cataract |
Occasional [Orphanet]
|
|
|
|
454 / 7739
|
|
23
|
(HPO:0002652)
|
Skeletal dysplasia |
Very frequent [Orphanet]
|
|
|
|
113 / 7739
|
|
24
|
(HPO:0002823)
|
Abnormality of the femur |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
25
|
(HPO:0000365)
|
Hearing impairment |
Frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
26
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
27
|
(HPO:0011800)
|
Midface retrusion |
Very frequent [Orphanet]
|
|
|
|
221 / 7739
|
|
28
|
(HPO:0000508)
|
Ptosis |
Occasional [Orphanet]
|
|
|
|
459 / 7739
|
|
29
|
(HPO:0002808)
|
Kyphosis |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
30
|
(HPO:0000488)
|
Retinopathy |
Very frequent [Orphanet]
|
|
|
|
75 / 7739
|
|
31
|
(HPO:0000541)
|
Retinal detachment |
Frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
32
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Very frequent [Orphanet]
|
|
|
|
119 / 7739
|
|
33
|
(HPO:0003307)
|
Hyperlordosis |
Very frequent [Orphanet]
|
|
|
|
122 / 7739
|
|
34
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
35
|
(HPO:0001083)
|
Ectopia lentis |
Occasional [Orphanet]
|
|
|
|
45 / 7739
|
|
36
|
(HPO:0000944)
|
Abnormality of the metaphyses |
Very frequent [Orphanet]
|
|
|
|
141 / 7739
|
|
37
|
(HPO:0000023)
|
Inguinal hernia |
|
|
|
|
181 / 7739
|
|
38
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
39
|
(HPO:0000403)
|
Recurrent otitis media |
|
|
|
|
61 / 7739
|
|
40
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
41
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
42
|
(HPO:0000947)
|
Dumbbell-shaped long bone |
|
|
|
|
5 / 7739
|
|
43
|
(HPO:0001270)
|
Motor delay |
|
|
|
|
322 / 7739
|
|
44
|
(HPO:0001288)
|
Gait disturbance |
|
|
|
|
318 / 7739
|
|
45
|
(HPO:0001376)
|
Limitation of joint mobility |
|
|
|
|
27 / 7739
|
|
46
|
(HPO:0001537)
|
Umbilical hernia |
|
|
|
|
206 / 7739
|
|
47
|
(HPO:0002663)
|
Delayed epiphyseal ossification |
|
|
|
|
21 / 7739
|
|
48
|
(HPO:0005059)
|
Arthralgia/arthritis |
|
|
|
|
141 / 7739
|
|
49
|
(HPO:0003015)
|
Flared metaphysis |
|
|
|
|
44 / 7739
|
|
50
|
(HPO:0003037)
|
Enlarged joints |
|
|
|
|
4 / 7739
|
|
51
|
(HPO:0003273)
|
Hip contracture |
|
|
|
|
30 / 7739
|
|
52
|
(HPO:0003417)
|
Coronal cleft vertebrae |
|
|
|
|
14 / 7739
|
|
53
|
(HPO:0003521)
|
Disproportionate short-trunk short stature |
|
|
|
|
29 / 7739
|
|
54
|
(HPO:0004619)
|
Lumbar kyphoscoliosis |
|
|
|
|
1 / 7739
|
|
55
|
(HPO:0006172)
|
Flattened, squared-off epiphyses of tubular bones |
|
|
|
|
1 / 7739
|
|
56
|
(HPO:0008271)
|
Abnormal cartilage collagen |
|
|
|
|
1 / 7739
|
|
57
|
(HPO:0008839)
|
Hypoplastic pelvis |
|
|
|
|
18 / 7739
|
|
58
|
(HPO:0200003)
|
Splayed epiphyses |
|
|
|
|
1 / 7739
|
|
59
|
(OMIM)
|
Final adult height 106-145cm |
|
|
|
|
1 / 7739
|
|
60
|
(HPO:0003498)
|
Disproportionate short stature |
|
|
|
|
28 / 7739
|
|
61
|
(OMIM)
|
Occipitoatlantal instability |
|
|
|
|
1 / 7739
|
|
62
|
(OMIM)
|
Short, dumbbell appearance of long bones |
|
|
|
|
1 / 7739
|
|
63
|
(OMIM)
|
Splayed epiphyses and metaphyses |
|
|
|
|
1 / 7739
|
|
64
|
(OMIM)
|
Megaepiphyses |
|
|
|
|
2 / 7739
|
|
65
|
(OMIM)
|
Narrowing of joint spaces |
|
|
|
|
1 / 7739
|
|
66
|
(HPO:0002829)
|
Arthralgia |
|
|
|
|
79 / 7739
|
|
67
|
(OMIM)
|
Keratan sulfaturia in some patients |
|
|
|
|
1 / 7739
|
|
68
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
69
|
(HPO:0001367)
|
Abnormal joint morphology |
Very frequent [Orphanet]
|
|
|
|
53 / 7739
|
|
70
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Very frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
71
|
(HPO:0008905)
|
Rhizomelia |
Very frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
72
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
73
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
74
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|