|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000327)
|
Hypoplasia of the maxilla |
|
|
|
|
129 / 7739
|
|
3
|
(HPO:0000336)
|
Prominent supraorbital ridges |
|
|
|
|
45 / 7739
|
|
4
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
5
|
(HPO:0000520)
|
Proptosis |
|
|
|
|
192 / 7739
|
|
6
|
(HPO:0001363)
|
Craniosynostosis |
|
|
|
|
132 / 7739
|
|
7
|
(HPO:0002135)
|
Basal ganglia calcification |
|
|
|
|
37 / 7739
|
|
8
|
(OMIM)
|
Mild proptosis |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Normal intelligence |
|
|
|
|
81 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|