|
1
|
(HPO:0000974)
|
Hyperextensible skin |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
2
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
Very frequent [Orphanet]
|
|
|
|
105 / 7739
|
|
3
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
4
|
(HPO:0000704)
|
Periodontitis |
Frequent [Orphanet]
|
|
|
|
24 / 7739
|
|
5
|
(HPO:0001382)
|
Joint hypermobility |
Frequent [Orphanet]
|
|
|
|
231 / 7739
|
|
6
|
(HPO:0001388)
|
Joint laxity |
|
|
|
|
117 / 7739
|
|
7
|
(HPO:0000962)
|
Hyperkeratosis |
Frequent [Orphanet]
|
|
|
|
216 / 7739
|
|
8
|
(HPO:0006323)
|
Premature loss of primary teeth |
Occasional [Orphanet]
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0000592)
|
Blue sclerae |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000963)
|
Thin skin |
|
|
|
|
96 / 7739
|
|
11
|
(HPO:0000978)
|
Bruising susceptibility |
|
|
|
|
123 / 7739
|
|
12
|
(HPO:0000987)
|
Atypical scarring of skin |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
|
13
|
(HPO:0001058)
|
Poor wound healing |
|
|
|
|
9 / 7739
|
|
14
|
(HPO:0006480)
|
Premature loss of teeth |
|
|
|
|
23 / 7739
|
|
15
|
(HPO:0007517)
|
Palmoplantar cutis laxa |
|
|
|
|
9 / 7739
|
|
16
|
(MedDRA:10018290)
|
Gingival recession |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Joint laxity, mild |
|
|
|
|
4 / 7739
|
|
18
|
(OMIM)
|
Marked bruisability |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Pretibial pigmented granulomatous plaques |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
21
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|