1
|
(HPO:0004331)
|
Decreased skull ossification |
Very frequent [Orphanet]
|
|
|
|
31 / 7739
|
2
|
(HPO:0100777)
|
Exostoses |
Very frequent [Orphanet]
|
|
|
|
32 / 7739
|
3
|
(HPO:0001249)
|
Intellectual disability |
7/10 [HPO]
|
|
8644736
|
IBIS
|
1089 / 7739
|
4
|
(HPO:0000054)
|
Micropenis |
5/6 [HPO]
|
|
8644736
|
IBIS
|
257 / 7739
|
5
|
(HPO:0000248)
|
Brachycephaly |
6/9 [HPO]
|
|
8644736
|
IBIS
|
222 / 7739
|
6
|
(HPO:0000262)
|
Turricephaly |
|
|
|
|
38 / 7739
|
7
|
(HPO:0000286)
|
Epicanthus |
4/9 [HPO]
|
|
8644736
|
IBIS
|
371 / 7739
|
8
|
(HPO:0000322)
|
Short philtrum |
6/9 [HPO]
|
|
15852040
|
IBIS
|
130 / 7739
|
9
|
(HPO:0000337)
|
Broad forehead |
|
|
8644736
|
IBIS
|
116 / 7739
|
10
|
(HPO:0000348)
|
High forehead |
|
|
8644736
|
IBIS
|
157 / 7739
|
11
|
(HPO:0000430)
|
Underdeveloped nasal alae |
|
|
8644736
|
IBIS
|
90 / 7739
|
12
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
8644736
|
IBIS
|
290 / 7739
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
8644736
|
IBIS
|
328 / 7739
|
14
|
(HPO:0000506)
|
Telecanthus |
4/9 [HPO]
|
|
8644736
|
IBIS
|
156 / 7739
|
15
|
(HPO:0000954)
|
Single transverse palmar crease |
5/6 [HPO]
|
|
8644736
|
IBIS
|
162 / 7739
|
16
|
(HPO:0001156)
|
Brachydactyly syndrome |
5/8 [HPO]
|
|
15852040
|
IBIS
|
180 / 7739
|
17
|
(HPO:0001250)
|
Seizures |
2/11 [HPO]
|
|
8644736
|
IBIS
|
1245 / 7739
|
18
|
(HPO:0001252)
|
Muscular hypotonia |
5/9 [HPO]
|
|
8644736
|
IBIS
|
990 / 7739
|
19
|
(HPO:0002645)
|
Wormian bones |
3/6 [HPO]
|
|
8644736
|
IBIS
|
65 / 7739
|
20
|
(HPO:0002697)
|
Parietal foramina |
9/11 [HPO]
|
|
8644736
|
IBIS
|
12 / 7739
|
21
|
(HPO:0002714)
|
Downturned corners of mouth |
8/9 [HPO]
|
|
15852040
|
IBIS
|
98 / 7739
|
22
|
(HPO:0002762)
|
Multiple exostoses |
10/10 [HPO]
|
|
8644736
|
IBIS
|
6 / 7739
|
23
|
(HPO:0003196)
|
Short nose |
|
|
8644736
|
IBIS
|
264 / 7739
|
24
|
(HPO:0004439)
|
Craniofacial dysostosis |
frequent [HPO]
|
|
8644736
|
IBIS
|
3 / 7739
|
25
|
(HPO:0005338)
|
Sparse lateral eyebrow |
6/9 [HPO]
|
|
15852040
|
IBIS
|
21 / 7739
|
26
|
(HPO:0005650)
|
Cutaneous syndactyly between fingers 2 and 5 |
rare [HPO]
|
|
|
|
1 / 7739
|
27
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
28
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|