1
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
2
|
(HPO:0009882)
|
Short distal phalanx of finger |
Very frequent [Orphanet]
|
|
|
|
125 / 7739
|
3
|
(HPO:0001199)
|
Triphalangeal thumb |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
4
|
(HPO:0005048)
|
Synostosis of carpal bones |
Very frequent [Orphanet]
|
|
|
|
39 / 7739
|
5
|
(HPO:0100490)
|
Camptodactyly of finger |
Occasional [Orphanet]
|
|
|
|
212 / 7739
|
6
|
(HPO:0000767)
|
Pectus excavatum |
Very frequent [Orphanet]
|
|
|
|
244 / 7739
|
7
|
(HPO:0002414)
|
Spina bifida |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
8
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
9
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
10
|
(HPO:0000765)
|
Abnormality of the thorax |
|
|
|
|
64 / 7739
|
11
|
(HPO:0001241)
|
Capitate-hamate fusion |
|
|
|
|
6 / 7739
|
12
|
(HPO:0001770)
|
Toe syndactyly |
|
|
|
|
149 / 7739
|
13
|
(HPO:0002652)
|
Skeletal dysplasia |
|
|
|
|
113 / 7739
|
14
|
(HPO:0003468)
|
Abnormality of the vertebrae |
|
|
|
|
77 / 7739
|
15
|
(HPO:0004601)
|
Spina bifida occulta at L5 |
|
|
|
|
1 / 7739
|
16
|
(HPO:0004614)
|
Spina bifida occulta at S1 |
|
|
|
|
2 / 7739
|
17
|
(HPO:0006101)
|
Finger syndactyly |
Very frequent [Orphanet]
|
|
|
|
198 / 7739
|
18
|
(HPO:0009467)
|
Radial deviation of the 2nd finger |
|
|
|
|
6 / 7739
|
19
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
20
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
21
|
(OMIM)
|
Spina bifida occulta at L5 or S1 |
|
|
|
|
1 / 7739
|
22
|
(OMIM)
|
Abnormal segmentation of the first ray |
|
|
|
|
1 / 7739
|
23
|
(OMIM)
|
Broad, short thumbs |
|
|
|
|
4 / 7739
|
24
|
(OMIM)
|
Thumb and index finger syndactyly |
|
|
|
|
1 / 7739
|
25
|
(OMIM)
|
Malformed toes |
|
|
|
|
2 / 7739
|
26
|
(OMIM)
|
Pectoral anomaly |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Sternal deformity |
|
|
|
|
2 / 7739
|
28
|
(HPO:0012758)
|
Neurodevelopmental delay |
Frequent [Orphanet]
|
|
|
|
949 / 7739
|
29
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
30
|
(HPO:0000174)
|
Abnormality of the palate |
Occasional [Orphanet]
|
|
|
|
298 / 7739
|
31
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|