|
1
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
2
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
3
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
4
|
(HPO:0000308)
|
Microretrognathia |
|
|
|
|
78 / 7739
|
|
5
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
6
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
7
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
8
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
9
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
10
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
11
|
(HPO:0002007)
|
Frontal bossing |
|
|
|
|
366 / 7739
|
|
12
|
(HPO:0002019)
|
Constipation |
|
|
|
|
194 / 7739
|
|
13
|
(HPO:0002251)
|
Aganglionic megacolon |
|
|
|
|
78 / 7739
|
|
14
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
15
|
(HPO:0008551)
|
Microtia |
|
|
|
|
98 / 7739
|
|
16
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
17
|
(OMIM)
|
Hypoplastic zygoma |
|
|
|
|
1 / 7739
|
|
18
|
(HPO:0000377)
|
Abnormality of the pinna |
|
|
|
|
111 / 7739
|
|
19
|
(OMIM)
|
Squared-off ears |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Small palpebral fissures |
|
|
|
|
6 / 7739
|
|
21
|
(OMIM)
|
Speech abnormalities |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
[DEL]Autistic features |
|
|
|
|
43 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
24
|
(HPO:0045025)
|
Narrow palpebral fissure |
|
|
|
|
8 / 7739
|