|
1
|
(HPO:0000256)
|
Macrocephaly |
|
|
|
|
298 / 7739
|
|
2
|
(HPO:0001355)
|
Megalencephaly |
|
|
|
|
39 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
6
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
7
|
(HPO:0003011)
|
Abnormality of the musculature |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0008239)
|
Adrenal medullary hypoplasia |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Underdeveloped skeletal musculature |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Underdeveloped brain precentral area |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000268)
|
Dolichocephaly |
|
|
|
|
144 / 7739
|
|
12
|
(HPO:0000303)
|
Mandibular prognathia |
|
|
|
|
179 / 7739
|
|
13
|
(HPO:0000307)
|
Pointed chin |
|
|
|
|
45 / 7739
|
|
14
|
(HPO:0000337)
|
Broad forehead |
|
|
|
|
116 / 7739
|
|
15
|
(HPO:0000483)
|
Astigmatism |
rare [HPO:skoehler]
|
|
|
|
67 / 7739
|
|
16
|
(HPO:0000545)
|
Myopia |
rare [HPO:skoehler]
|
|
|
|
286 / 7739
|
|
17
|
(HPO:0000709)
|
Psychosis |
rare [HPO:skoehler]
|
|
|
|
61 / 7739
|
|
18
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0010499)
|
Patellar subluxation |
rare [HPO:skoehler]
|
|
|
|
3 / 7739
|