|
1
|
(HPO:0000256)
|
Macrocephaly |
Very frequent [Orphanet]
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0000277)
|
Abnormality of the mandible |
Very frequent [Orphanet]
|
|
|
|
394 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
Very frequent [Orphanet]
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000337)
|
Broad forehead |
Very frequent [Orphanet]
|
|
|
|
116 / 7739
|
|
5
|
(HPO:0000348)
|
High forehead |
Very frequent [Orphanet]
|
|
|
|
157 / 7739
|
|
6
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
7
|
(HPO:0001363)
|
Craniosynostosis |
Frequent [Orphanet]
|
|
|
|
132 / 7739
|
|
8
|
(HPO:0002516)
|
Increased intracranial pressure |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
9
|
(HPO:0010628)
|
Facial palsy |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
10
|
(HPO:0011001)
|
Increased bone mineral density |
Very frequent [Orphanet]
|
|
|
|
78 / 7739
|
|
11
|
(HPO:0004437)
|
Cranial hyperostosis |
Very frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
12
|
(HPO:0000572)
|
Visual loss |
Occasional [Orphanet]
|
|
|
|
272 / 7739
|
|
13
|
(HPO:0002315)
|
Headache |
Occasional [Orphanet]
|
|
|
|
175 / 7739
|
|
14
|
(HPO:0000248)
|
Brachycephaly |
Very frequent [Orphanet]
|
|
|
|
222 / 7739
|
|
15
|
(HPO:0012795)
|
Abnormality of the optic disc |
Occasional [Orphanet]
|
|
|
|
187 / 7739
|
|
16
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|