|
1
|
(HPO:0000194)
|
Open mouth |
|
|
|
|
70 / 7739
|
|
2
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000582)
|
Upslanted palpebral fissure |
|
|
|
|
185 / 7739
|
|
5
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
6
|
(HPO:0000678)
|
Dental crowding |
|
|
|
|
65 / 7739
|
|
7
|
(HPO:0000717)
|
Autism |
|
|
|
|
108 / 7739
|
|
8
|
(HPO:0000752)
|
Hyperactivity |
|
|
|
|
140 / 7739
|
|
9
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
10
|
(HPO:0001382)
|
Joint hypermobility |
|
|
|
|
231 / 7739
|
|
11
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
12
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
13
|
(HPO:0009909)
|
Uplifted earlobe |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0010804)
|
Tented upper lip vermilion |
|
|
|
|
47 / 7739
|
|
15
|
(OMIM)
|
Mild dysmorphic features |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Hypotonic midface |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Thick ears |
|
|
|
|
3 / 7739
|
|
18
|
(OMIM)
|
Upturned lobes |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Thickened alae nasi and columella |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Crowded dentition |
|
|
|
|
2 / 7739
|
|
21
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
22
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
23
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|