|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
3
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
4
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
5
|
(HPO:0002126)
|
Polymicrogyria |
|
|
|
|
64 / 7739
|
|
6
|
(HPO:0007965)
|
Undetectable visual evoked potentials |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0011344)
|
Severe global developmental delay |
|
|
|
|
46 / 7739
|
|
8
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
9
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
10
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
11
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
12
|
(HPO:0000059)
|
Hypoplastic labia majora |
|
|
|
|
22 / 7739
|
|
13
|
(HPO:0000248)
|
Brachycephaly |
|
|
|
|
222 / 7739
|
|
14
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
15
|
(HPO:0000400)
|
Macrotia |
|
|
|
|
108 / 7739
|
|
16
|
(HPO:0000426)
|
Prominent nasal bridge |
|
|
|
|
121 / 7739
|
|
17
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
18
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
19
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
20
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
21
|
(HPO:0001845)
|
Overlapping toe |
|
|
|
|
18 / 7739
|
|
22
|
(HPO:0002283)
|
Global brain atrophy |
|
|
|
|
12 / 7739
|
|
23
|
(HPO:0003196)
|
Short nose |
|
|
|
|
264 / 7739
|
|
24
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
26
|
(HPO:0008936)
|
Muscular hypotonia of the trunk |
|
|
|
|
77 / 7739
|
|
27
|
(HPO:0010722)
|
Asymmetry of the ears |
|
|
|
|
3 / 7739
|
|
28
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|