|
1
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
2
|
(HPO:0000233)
|
Thin vermilion border |
|
|
|
|
124 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
5
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
6
|
(HPO:0000411)
|
Protruding ear |
|
|
|
|
140 / 7739
|
|
7
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
8
|
(HPO:0000581)
|
Blepharophimosis |
|
|
|
|
197 / 7739
|
|
9
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
10
|
(HPO:0003758)
|
Reduced subcutaneous adipose tissue |
|
|
|
|
27 / 7739
|
|
11
|
(HPO:0001166)
|
Arachnodactyly |
|
|
|
|
62 / 7739
|
|
12
|
(HPO:0100807)
|
Long fingers |
|
|
|
|
23 / 7739
|
|
13
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
14
|
(HPO:0001562)
|
Oligohydramnios |
|
|
|
|
75 / 7739
|
|
15
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
|
|
104 / 7739
|
|
16
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
17
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
|
|
|
|
288 / 7739
|
|
18
|
(HPO:0005328)
|
Progeroid facial appearance |
|
|
|
|
13 / 7739
|
|
19
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
20
|
(HPO:0009183)
|
Joint contracture of the 5th finger |
|
|
|
|
8 / 7739
|
|
21
|
(HPO:0010554)
|
Cutaneous finger syndactyly |
|
|
|
|
39 / 7739
|
|
22
|
(OMIM)
|
Partial cutaneous syndactyly |
|
|
|
|
2 / 7739
|
|
23
|
(OMIM)
|
Prominent veins |
|
|
|
|
3 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|