|
1
|
(HPO:0001182)
|
Tapered finger |
Frequent [Orphanet]
|
|
|
|
93 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
Very frequent [Orphanet]
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000768)
|
Pectus carinatum |
Occasional [Orphanet]
|
|
|
|
136 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
Frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
Very frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0000276)
|
Long face |
Occasional [Orphanet]
|
|
|
|
109 / 7739
|
|
7
|
(HPO:0004684)
|
Talipes valgus |
Occasional [Orphanet]
|
|
|
|
28 / 7739
|
|
8
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
9
|
(HPO:0000176)
|
Submucous cleft hard palate |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0000193)
|
Bifid uvula |
|
|
|
|
66 / 7739
|
|
11
|
(HPO:0000581)
|
Blepharophimosis |
Very frequent [Orphanet]
|
|
|
|
197 / 7739
|
|
12
|
(HPO:0000272)
|
Malar flattening |
Occasional [Orphanet]
|
|
|
|
277 / 7739
|
|
13
|
(HPO:0000411)
|
Protruding ear |
Very frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
14
|
(HPO:0100625)
|
Enlarged thorax |
Occasional [Orphanet]
|
|
|
|
15 / 7739
|
|
15
|
(HPO:0002705)
|
High, narrow palate |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
16
|
(HPO:0000582)
|
Upslanted palpebral fissure |
Frequent [Orphanet]
|
|
|
|
185 / 7739
|
|
17
|
(HPO:0000307)
|
Pointed chin |
Very frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
18
|
(HPO:0001833)
|
Long foot |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
19
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Frequent [Orphanet]
|
|
|
|
288 / 7739
|
|
20
|
(HPO:0001770)
|
Toe syndactyly |
Frequent [Orphanet]
|
|
|
|
149 / 7739
|
|
21
|
(HPO:0001847)
|
Long hallux |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|
|
22
|
(HPO:0000337)
|
Broad forehead |
Occasional [Orphanet]
|
|
|
|
116 / 7739
|
|
23
|
(HPO:0000349)
|
Widow's peak |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
|
24
|
(HPO:0000954)
|
Single transverse palmar crease |
Occasional [Orphanet]
|
|
|
|
162 / 7739
|
|
25
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
rare [HPO:skoehler]
|
|
|
|
1232 / 7739
|
|
26
|
(HPO:0011302)
|
Long palm |
Frequent [Orphanet]
|
|
|
|
70 / 7739
|
|
27
|
(HPO:0000286)
|
Epicanthus |
Occasional [Orphanet]
|
|
|
|
371 / 7739
|
|
28
|
(HPO:0000601)
|
Hypotelorism |
Very frequent [Orphanet]
|
|
|
|
83 / 7739
|
|
29
|
(HPO:0000047)
|
Hypospadias |
Frequent [Orphanet]
|
|
|
|
250 / 7739
|
|
30
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
31
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
32
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
33
|
(HPO:0001256)
|
Intellectual disability, mild |
rare [HPO:skoehler]
|
|
|
|
141 / 7739
|
|
34
|
(HPO:0002167)
|
Neurological speech impairment |
Occasional [Orphanet]
|
|
|
|
308 / 7739
|
|
35
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
36
|
(HPO:0004299)
|
Hernia of the abdominal wall |
Occasional [Orphanet]
|
|
|
|
176 / 7739
|
|
37
|
(HPO:0005709)
|
2-3 toe cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
38
|
(HPO:0007018)
|
Attention deficit hyperactivity disorder |
|
|
|
|
56 / 7739
|
|
39
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
40
|
(HPO:0011939)
|
3-4 finger cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
41
|
(OMIM)
|
Asymmetric face |
|
|
|
|
5 / 7739
|
|
42
|
(HPO:0001159)
|
Syndactyly |
|
|
|
|
140 / 7739
|
|
43
|
(MedDRA:10058668)
|
Clinodactyly |
|
|
|
|
91 / 7739
|
|
44
|
(HPO:0000174)
|
Abnormality of the palate |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
45
|
(HPO:0006101)
|
Finger syndactyly |
Frequent [Orphanet]
|
|
|
|
198 / 7739
|
|
46
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
47
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
48
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|
|
49
|
(HPO:0030084)
|
Clinodactyly |
|
|
|
|
90 / 7739
|