1
|
(HPO:0001180)
|
Hand oligodactyly |
|
|
|
|
17 / 7739
|
2
|
(HPO:0009380)
|
Aplasia of the fingers |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
3
|
(HPO:0000470)
|
Short neck |
Very frequent [Orphanet]
|
|
|
|
345 / 7739
|
4
|
(HPO:0001177)
|
Preaxial hand polydactyly |
Very frequent [Orphanet]
|
|
|
|
59 / 7739
|
5
|
(HPO:0000506)
|
Telecanthus |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
6
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
7
|
(HPO:0010285)
|
Oral synechia |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
8
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
9
|
(HPO:0003027)
|
Mesomelia |
Very frequent [Orphanet]
|
|
|
|
58 / 7739
|
10
|
(HPO:0005280)
|
Depressed nasal bridge |
Very frequent [Orphanet]
|
|
|
|
381 / 7739
|
11
|
(HPO:0007477)
|
Abnormal dermatoglyphics |
Very frequent [Orphanet]
|
|
|
|
72 / 7739
|
12
|
(HPO:0001850)
|
Abnormality of the tarsal bones |
Very frequent [Orphanet]
|
|
|
|
40 / 7739
|
13
|
(HPO:0012368)
|
Flat face |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
14
|
(HPO:0000343)
|
Long philtrum |
Very frequent [Orphanet]
|
|
|
|
262 / 7739
|
15
|
(HPO:0002818)
|
Abnormality of the radius |
Very frequent [Orphanet]
|
|
|
|
96 / 7739
|
16
|
(HPO:0002990)
|
Fibular aplasia |
|
|
|
|
16 / 7739
|
17
|
(HPO:0005802)
|
Coalescence of tarsal bones |
|
|
|
|
1 / 7739
|
18
|
(HPO:0012165)
|
Oligodactyly |
|
|
|
|
18 / 7739
|
19
|
(HPO:0100258)
|
Preaxial polydactyly |
|
|
|
|
39 / 7739
|
20
|
(OMIM)
|
Radial shortening |
|
|
|
|
2 / 7739
|
21
|
(OMIM)
|
Vestibular frenulae |
|
|
|
|
1 / 7739
|
22
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
23
|
(HPO:0001804)
|
Hypoplastic fingernail |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
24
|
(HPO:0001172)
|
Abnormality of the thumb |
Very frequent [Orphanet]
|
|
|
|
103 / 7739
|
25
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
26
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|