|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
Occasional [Orphanet]
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000405)
|
Conductive hearing impairment |
Frequent [Orphanet]
|
|
|
|
164 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000501)
|
Glaucoma |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
|
5
|
(HPO:0000541)
|
Retinal detachment |
Occasional [Orphanet]
|
|
|
|
87 / 7739
|
|
6
|
(HPO:0000545)
|
Myopia |
Very frequent [Orphanet]
|
|
|
|
286 / 7739
|
|
7
|
(HPO:0000592)
|
Blue sclerae |
Frequent [Orphanet]
|
|
|
|
85 / 7739
|
|
8
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
9
|
(HPO:0000987)
|
Atypical scarring of skin |
Frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
10
|
(HPO:0001131)
|
Corneal dystrophy |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0001288)
|
Gait disturbance |
Frequent [Orphanet]
|
|
|
|
318 / 7739
|
|
12
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
13
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
14
|
(HPO:0001633)
|
Abnormality of the mitral valve |
Occasional [Orphanet]
|
|
|
|
69 / 7739
|
|
15
|
(HPO:0001641)
|
Abnormality of the pulmonary valve |
Occasional [Orphanet]
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
|
17
|
(HPO:0003326)
|
Myalgia |
Frequent [Orphanet]
|
|
|
|
143 / 7739
|
|
18
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
19
|
(HPO:0005930)
|
Abnormality of epiphysis morphology |
Occasional [Orphanet]
|
|
|
|
119 / 7739
|
|
20
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
21
|
(HPO:0001595)
|
Abnormality of the hair |
Frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
22
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
23
|
(HPO:0001385)
|
Hip dysplasia |
Occasional [Orphanet]
|
|
|
|
242 / 7739
|
|
24
|
(HPO:0002659)
|
Increased susceptibility to fractures |
Occasional [Orphanet]
|
|
|
|
110 / 7739
|
|
25
|
(HPO:0000481)
|
Abnormality of the cornea |
Occasional [Orphanet]
|
|
|
|
124 / 7739
|
|
26
|
(HPO:0100692)
|
Increased corneal curvature |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
27
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
|
28
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
29
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
30
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
31
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
32
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
33
|
(HPO:0000703)
|
Dentinogenesis imperfecta |
|
|
|
|
18 / 7739
|
|
34
|
(HPO:0000993)
|
Molluscoid pseudotumors |
|
|
|
|
8 / 7739
|
|
35
|
(HPO:0001119)
|
Keratoglobus |
|
|
|
|
4 / 7739
|
|
36
|
(HPO:0001374)
|
Congenital hip dislocation |
|
|
|
|
51 / 7739
|
|
37
|
(HPO:0001519)
|
Disproportionate tall stature |
|
|
|
|
39 / 7739
|
|
38
|
(HPO:0001634)
|
Mitral valve prolapse |
|
|
|
|
69 / 7739
|
|
39
|
(HPO:0002297)
|
Red hair |
|
|
|
|
9 / 7739
|
|
40
|
(HPO:0003302)
|
Spondylolisthesis |
|
|
|
|
14 / 7739
|
|
41
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
42
|
(HPO:0100689)
|
Decreased corneal thickness |
|
|
|
|
2 / 7739
|