|
1
|
(HPO:0000411)
|
Protruding ear |
Occasional [Orphanet]
|
|
|
|
140 / 7739
|
|
2
|
(HPO:0004322)
|
Short stature |
Very frequent [Orphanet]
|
|
|
|
1232 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000486)
|
Strabismus |
Frequent [Orphanet]
|
|
|
|
576 / 7739
|
|
5
|
(HPO:0000639)
|
Nystagmus |
Occasional [Orphanet]
|
|
|
|
555 / 7739
|
|
6
|
(HPO:0000340)
|
Sloping forehead |
|
|
|
|
86 / 7739
|
|
7
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
8
|
(HPO:0000601)
|
Hypotelorism |
|
|
|
|
83 / 7739
|
|
9
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
|
|
32 / 7739
|
|
10
|
(HPO:0001137)
|
Alternating esotropia |
|
|
|
|
4 / 7739
|
|
11
|
(HPO:0009804)
|
Reduced number of teeth |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
12
|
(HPO:0010055)
|
Broad hallux |
|
|
|
|
56 / 7739
|
|
13
|
(HPO:0011094)
|
Overbite |
|
|
|
|
5 / 7739
|
|
14
|
(HPO:0011304)
|
Broad thumb |
|
|
|
|
39 / 7739
|
|
15
|
(OMIM)
|
Receding or small forehead |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Normal intelligence, occasional mild mental retardation |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Philtrum fullness |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Maxillary overbite |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Broad thumbs and great toes |
|
|
|
|
1 / 7739
|
|
20
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|