|
1
|
(HPO:0000104)
|
Renal agenesis |
|
|
|
|
68 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
|
4
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
5
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
6
|
(HPO:0005807)
|
Absent distal phalanges |
|
|
|
|
4 / 7739
|
|
7
|
(HPO:0005831)
|
Type B brachydactyly |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0005848)
|
Bifid thumb distal phalanx |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0009642)
|
Broad distal phalanx of the thumb |
|
|
|
|
4 / 7739
|
|
10
|
(HPO:0100490)
|
Camptodactyly of finger |
Frequent [Orphanet]
|
|
|
|
212 / 7739
|
|
11
|
(OMIM)
|
Coloboma of macula |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Broad or bifid thumb distal phalanx |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001804)
|
Hypoplastic fingernail |
Frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
14
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
15
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
16
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0000589)
|
Coloboma |
|
|
|
|
47 / 7739
|