1
|
(HPO:0002644)
|
Abnormality of pelvic girdle bone morphology |
|
|
|
|
31 / 7739
|
2
|
(HPO:0002868)
|
Narrow iliac wings |
|
|
|
|
15 / 7739
|
3
|
(HPO:0003172)
|
Abnormality of the pubic bone |
|
|
|
|
5 / 7739
|
4
|
(HPO:0000954)
|
Single transverse palmar crease |
Frequent [Orphanet]
|
|
|
|
162 / 7739
|
5
|
(HPO:0007598)
|
Bilateral single transverse palmar creases |
|
|
|
|
13 / 7739
|
6
|
(HPO:0000098)
|
Tall stature |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
7
|
(HPO:0000286)
|
Epicanthus |
Frequent [Orphanet]
|
|
|
|
371 / 7739
|
8
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
9
|
(HPO:0000275)
|
Narrow face |
Occasional [Orphanet]
|
|
|
|
76 / 7739
|
10
|
(HPO:0001155)
|
Abnormality of the hand |
Very frequent [Orphanet]
|
|
|
|
54 / 7739
|
11
|
(HPO:0002650)
|
Scoliosis |
Very frequent [Orphanet]
|
|
|
|
705 / 7739
|
12
|
(HPO:0100490)
|
Camptodactyly of finger |
Very frequent [Orphanet]
|
|
|
|
212 / 7739
|
13
|
(HPO:0001204)
|
Distal symphalangism of hands |
|
|
|
|
13 / 7739
|
14
|
(HPO:0001761)
|
Pes cavus |
|
|
|
|
225 / 7739
|
15
|
(HPO:0001769)
|
Broad foot |
|
|
|
|
31 / 7739
|
16
|
(HPO:0002944)
|
Thoracolumbar scoliosis |
|
|
|
|
13 / 7739
|
17
|
(HPO:0003180)
|
Flat acetabular roof |
|
|
|
|
25 / 7739
|
18
|
(HPO:0006170)
|
Chess-pawn distal phalanges |
|
|
|
|
1 / 7739
|
19
|
(HPO:0009371)
|
Type A1 brachydactyly |
|
|
|
|
2 / 7739
|
20
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
21
|
(HPO:0010239)
|
Aplasia of the middle phalanx of the hand |
|
|
|
|
3 / 7739
|
22
|
(OMIM)
|
Normal to tall stature |
|
|
|
|
3 / 7739
|
23
|
(OMIM)
|
Ovoid pelvis |
|
|
|
|
1 / 7739
|
24
|
(HPO:0100263)
|
Distal symphalangism |
|
|
|
|
5 / 7739
|
25
|
(HPO:0012385)
|
Camptodactyly |
|
|
|
|
113 / 7739
|
26
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
27
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
28
|
(HPO:0011867)
|
Abnormality of the wing of the ilium |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
29
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|