|
1
|
(HPO:0000485)
|
Megalocornea |
rare [HPO:skoehler]
|
|
|
|
26 / 7739
|
|
2
|
(HPO:0000545)
|
Myopia |
|
|
|
|
286 / 7739
|
|
3
|
(HPO:0000563)
|
Keratoconus |
|
|
|
|
25 / 7739
|
|
4
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000647)
|
Sclerocornea |
rare [HPO:skoehler]
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0001119)
|
Keratoglobus |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0001288)
|
Gait disturbance |
rare [HPO:skoehler]
|
|
|
|
318 / 7739
|
|
8
|
(HPO:0002757)
|
Recurrent fractures |
rare [HPO:skoehler]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0003326)
|
Myalgia |
rare [HPO:skoehler]
|
|
|
|
143 / 7739
|
|
10
|
(HPO:0007720)
|
Flat cornea |
rare [HPO:skoehler]
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Hearing loss, sensorineural and conductive |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Hypercompliant tympanic membranes |
|
|
|
|
1 / 7739
|
|
13
|
(MedDRA:10054760)
|
Corneal thinning |
|
|
|
|
2 / 7739
|
|
14
|
(OMIM)
|
Corneal rupture |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Hernia, inguinal, umbilical, or epigastric (in some patients) |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Small joint hypermobility |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Developmental dysplasia of the hip (in some patients) |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Soft with easy bruising (in some patients) |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Poor healing with abnormal scarring (in some patients) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Hyperelasticity (in some patients) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
22
|
(HPO:0000023)
|
Inguinal hernia |
rare [HPO:probinson]
|
|
|
|
181 / 7739
|
|
23
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
24
|
(HPO:0001537)
|
Umbilical hernia |
rare [HPO:probinson]
|
|
|
|
206 / 7739
|