|
1
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
2
|
(HPO:0009486)
|
Radial deviation of the hand |
Very frequent [Orphanet]
|
|
|
|
13 / 7739
|
|
3
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Frequent [Orphanet]
|
|
|
|
59 / 7739
|
|
4
|
(HPO:0010049)
|
Short metacarpal |
|
|
|
|
99 / 7739
|
|
5
|
(HPO:0000664)
|
Synophrys |
Frequent [Orphanet]
|
|
|
|
112 / 7739
|
|
6
|
(HPO:0004279)
|
Short palm |
Frequent [Orphanet]
|
|
|
|
323 / 7739
|
|
7
|
(HPO:0002705)
|
High, narrow palate |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
Frequent [Orphanet]
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000574)
|
Thick eyebrow |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
|
10
|
(HPO:0001163)
|
Abnormality of the metacarpal bones |
Very frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
11
|
(HPO:0001231)
|
Abnormality of the fingernails |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
12
|
(HPO:0001234)
|
Hitchhiker thumb |
|
|
|
|
5 / 7739
|
|
13
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
14
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
15
|
(HPO:0010109)
|
Short hallux |
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0010743)
|
Short metatarsal |
|
|
|
|
56 / 7739
|
|
17
|
(OMIM)
|
Short abducted thumbs |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Short abducted first toes |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Normal proximal and middle phalanges |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
|
21
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
22
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|