1
|
(HPO:0000506)
|
Telecanthus |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
2
|
(HPO:0000275)
|
Narrow face |
Frequent [Orphanet]
|
|
|
|
76 / 7739
|
3
|
(HPO:0000276)
|
Long face |
Very frequent [Orphanet]
|
|
|
|
109 / 7739
|
4
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Very frequent [Orphanet]
|
|
|
|
288 / 7739
|
5
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
6
|
(HPO:0000431)
|
Wide nasal bridge |
Very frequent [Orphanet]
|
|
|
|
290 / 7739
|
7
|
(HPO:0005989)
|
Redundant neck skin |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
8
|
(HPO:0011331)
|
Hemifacial atrophy |
Frequent [Orphanet]
|
|
|
|
79 / 7739
|
9
|
(HPO:0000316)
|
Hypertelorism |
Frequent [Orphanet]
|
|
|
|
644 / 7739
|
10
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
11
|
(HPO:0001622)
|
Premature birth |
Frequent [Orphanet]
|
|
|
|
100 / 7739
|
12
|
(HPO:0000286)
|
Epicanthus |
Very frequent [Orphanet]
|
|
|
|
371 / 7739
|
13
|
(HPO:0004279)
|
Short palm |
Very frequent [Orphanet]
|
|
|
|
323 / 7739
|
14
|
(HPO:0001169)
|
Broad palm |
|
|
|
|
43 / 7739
|
15
|
(HPO:0001176)
|
Large hands |
Frequent [Orphanet]
|
|
|
|
43 / 7739
|
16
|
(HPO:0000189)
|
Narrow palate |
|
|
|
|
45 / 7739
|
17
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
18
|
(HPO:0002705)
|
High, narrow palate |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
19
|
(HPO:0002750)
|
Delayed skeletal maturation |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
20
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
21
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
22
|
(HPO:0001212)
|
Prominent fingertip pads |
|
|
|
|
12 / 7739
|
23
|
(HPO:0001611)
|
Nasal speech |
|
|
|
|
48 / 7739
|
24
|
(HPO:0001773)
|
Short foot |
|
|
|
|
86 / 7739
|
25
|
(HPO:0005639)
|
Hyperextensible hand joints |
|
|
|
|
3 / 7739
|
26
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
27
|
(OMIM)
|
Broad and high nasal bridge |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
29
|
(OMIM)
|
Mild mesomelic brachymelia |
|
|
|
|
1 / 7739
|
30
|
(OMIM)
|
Broad, short hands |
|
|
|
|
14 / 7739
|
31
|
(OMIM)
|
Short stubby thumbs |
|
|
|
|
1 / 7739
|
32
|
(HPO:0009466)
|
Radial deviation of finger |
Frequent [Orphanet]
|
|
|
|
101 / 7739
|
33
|
(HPO:0001172)
|
Abnormality of the thumb |
Frequent [Orphanet]
|
|
|
|
103 / 7739
|
34
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|