|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
6
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
7
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
8
|
(HPO:0001256)
|
Intellectual disability, mild |
|
|
|
|
141 / 7739
|
|
9
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
|
10
|
(HPO:0001620)
|
High pitched voice |
|
|
|
|
32 / 7739
|
|
11
|
(HPO:0002370)
|
Poor coordination |
|
|
|
|
15 / 7739
|
|
12
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
|
|
158 / 7739
|
|
13
|
(HPO:0003510)
|
Severe short stature |
|
|
|
|
90 / 7739
|
|
14
|
(HPO:0004326)
|
Cachexia |
|
|
|
|
71 / 7739
|
|
15
|
(HPO:0006297)
|
Hypoplasia of dental enamel |
|
|
|
|
64 / 7739
|
|
16
|
(HPO:0007495)
|
Prematurely aged appearance |
|
|
|
|
44 / 7739
|
|
17
|
(HPO:0007519)
|
Lack of subcutaneous fatty tissue |
|
|
|
|
2 / 7739
|