|
1
|
(HPO:0001387)
|
Joint stiffness |
Very frequent [Orphanet]
|
|
|
|
322 / 7739
|
|
2
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Occasional [Orphanet]
|
|
|
|
59 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
Very frequent [Orphanet]
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0001199)
|
Triphalangeal thumb |
Frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
5
|
(HPO:0005048)
|
Synostosis of carpal bones |
Frequent [Orphanet]
|
|
|
|
39 / 7739
|
|
6
|
(HPO:0009702)
|
Carpal synostosis |
|
|
|
|
26 / 7739
|
|
7
|
(HPO:0002974)
|
Radioulnar synostosis |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
8
|
(HPO:0000143)
|
Rectovaginal fistula |
|
|
|
|
18 / 7739
|
|
9
|
(HPO:0002023)
|
Anal atresia |
Occasional [Orphanet]
|
|
|
|
135 / 7739
|
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
11
|
(HPO:0006660)
|
Aplastic clavicles |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
Very frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0001873)
|
Thrombocytopenia |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
14
|
(HPO:0002650)
|
Scoliosis |
Frequent [Orphanet]
|
|
|
|
705 / 7739
|
|
15
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Frequent [Orphanet]
|
|
|
|
72 / 7739
|
|
16
|
(HPO:0001974)
|
Leukocytosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
17
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
18
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
|
19
|
(HPO:0009601)
|
Aplasia/Hypoplasia of the thumb |
Frequent [Orphanet]
|
|
|
|
80 / 7739
|
|
20
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
21
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
|
|
40 / 7739
|
|
22
|
(HPO:0001245)
|
Small thenar eminence |
|
|
|
|
10 / 7739
|
|
23
|
(HPO:0001498)
|
Carpal bone hypoplasia |
|
|
|
|
17 / 7739
|
|
24
|
(HPO:0002566)
|
Intestinal malrotation |
|
|
|
|
89 / 7739
|
|
25
|
(HPO:0002996)
|
Limited elbow movement |
|
|
|
|
16 / 7739
|
|
26
|
(HPO:0006064)
|
Limited interphalangeal movement |
|
|
|
|
1 / 7739
|
|
27
|
(HPO:0006248)
|
Limited wrist movement |
|
|
|
|
2 / 7739
|
|
28
|
(HPO:0008953)
|
Pectoralis major hypoplasia |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0030241)
|
Hypoplasia of deltoid muscle |
|
|
|
|
2 / 7739
|
|
30
|
(HPO:0010034)
|
Short 1st metacarpal |
|
|
|
|
19 / 7739
|
|
31
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
32
|
(OMIM)
|
Mild thrombocytopenia |
|
|
|
|
5 / 7739
|
|
33
|
(HPO:0011025)
|
Abnormality of cardiovascular system physiology |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
35
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|