|
1
|
(HPO:0000202)
|
Oral cleft |
10 % [HPO:skoehler]
|
|
|
|
120 / 7739
|
|
2
|
(HPO:0000218)
|
High palate |
17 % [HPO:skoehler]
|
|
|
|
356 / 7739
|
|
3
|
(HPO:0002705)
|
High, narrow palate |
|
|
|
|
308 / 7739
|
|
4
|
(HPO:0000238)
|
Hydrocephalus |
|
|
|
|
278 / 7739
|
|
5
|
(HPO:0000243)
|
Trigonocephaly |
|
|
|
|
40 / 7739
|
|
6
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
12 % [HPO:skoehler]
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000341)
|
Narrow forehead |
53 % [HPO:skoehler]
|
|
|
|
96 / 7739
|
|
9
|
(HPO:0000400)
|
Macrotia |
37 % [HPO:skoehler]
|
|
|
|
108 / 7739
|
|
10
|
(HPO:0000582)
|
Upslanted palpebral fissure |
97 % [HPO:skoehler]
|
|
|
|
185 / 7739
|
|
11
|
(HPO:0000601)
|
Hypotelorism |
19 % [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
12
|
(HPO:0000664)
|
Synophrys |
|
|
|
|
112 / 7739
|
|
13
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001360)
|
Holoprosencephaly |
|
|
|
|
29 / 7739
|
|
16
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
17
|
(HPO:0005280)
|
Depressed nasal bridge |
33 % [HPO:skoehler]
|
|
|
|
381 / 7739
|
|
18
|
(OMIM)
|
Tall, broad forehead |
|
|
|
|
3 / 7739
|
|
19
|
(OMIM)
|
Broad, deep philtrum (43%) |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Short nose with anteverted nares (73%) |
|
|
|
|
1 / 7739
|
|
21
|
(HPO:0001334)
|
Communicating hydrocephalus |
|
|
|
|
32 / 7739
|
|
22
|
(HPO:0010301)
|
Spinal dysraphism |
|
|
|
|
14 / 7739
|
|
23
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|