|
1
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
2
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000293)
|
Full cheeks |
|
|
|
|
85 / 7739
|
|
5
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
6
|
(HPO:0000331)
|
Short chin |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0000358)
|
Posteriorly rotated ears |
|
|
|
|
163 / 7739
|
|
8
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
9
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
|
|
90 / 7739
|
|
10
|
(HPO:0000527)
|
Long eyelashes |
|
|
|
|
46 / 7739
|
|
11
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
12
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
13
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
14
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
15
|
(HPO:0002553)
|
Highly arched eyebrow |
|
|
|
|
92 / 7739
|
|
16
|
(HPO:0003189)
|
Long nose |
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
18
|
(HPO:0005280)
|
Depressed nasal bridge |
|
|
|
|
381 / 7739
|
|
19
|
(HPO:0005288)
|
Abnormality of the nares |
|
|
|
|
3 / 7739
|
|
20
|
(HPO:0009882)
|
Short distal phalanx of finger |
|
|
|
|
125 / 7739
|
|
21
|
(HPO:0009891)
|
Underdeveloped supraorbital ridges |
|
|
|
|
36 / 7739
|
|
22
|
(HPO:0009929)
|
Abnormality of the columella |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0011800)
|
Midface retrusion |
|
|
|
|
221 / 7739
|
|
24
|
(HPO:0011937)
|
Hypoplastic fifth toenail |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0012471)
|
Thick vermilion border |
|
|
|
|
115 / 7739
|
|
26
|
(HPO:0012745)
|
Short palpebral fissure |
|
|
|
|
47 / 7739
|