|
1
|
(HPO:0000219)
|
Thin upper lip vermilion |
|
|
|
|
112 / 7739
|
|
2
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
3
|
(HPO:0000272)
|
Malar flattening |
|
|
|
|
277 / 7739
|
|
4
|
(HPO:0000276)
|
Long face |
|
|
|
|
109 / 7739
|
|
5
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000319)
|
Smooth philtrum |
|
|
|
|
72 / 7739
|
|
8
|
(HPO:0000322)
|
Short philtrum |
|
|
|
|
130 / 7739
|
|
9
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
10
|
(HPO:0000448)
|
Prominent nose |
|
|
|
|
56 / 7739
|
|
11
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
12
|
(HPO:0000718)
|
Aggressive behavior |
|
|
|
|
109 / 7739
|
|
13
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001513)
|
Obesity |
rare [HPO:skoehler]
|
|
|
|
172 / 7739
|
|
16
|
(HPO:0002342)
|
Intellectual disability, moderate |
|
|
|
|
37 / 7739
|
|
17
|
(HPO:0004523)
|
Long eyebrows |
|
|
|
|
4 / 7739
|
|
18
|
(HPO:0011229)
|
Broad eyebrow |
|
|
|
|
9 / 7739
|
|
19
|
(OMIM)
|
Dolichocephaly, mild |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Triangular chin |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Mental retardation, moderate to profound |
|
|
|
|
2 / 7739
|
|
22
|
(HPO:0001327)
|
Photomyoclonic seizures |
|
|
|
|
125 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|