|
1
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
2
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
3
|
(HPO:0000046)
|
Scrotal hypoplasia |
|
|
|
|
54 / 7739
|
|
4
|
(HPO:0000054)
|
Micropenis |
|
|
|
|
257 / 7739
|
|
5
|
(HPO:0000160)
|
Narrow mouth |
|
|
|
|
188 / 7739
|
|
6
|
(HPO:0000248)
|
Brachycephaly |
rare [HPO:skoehler]
|
|
|
|
222 / 7739
|
|
7
|
(HPO:0000294)
|
Low anterior hairline |
|
|
|
|
52 / 7739
|
|
8
|
(HPO:0000431)
|
Wide nasal bridge |
|
|
|
|
290 / 7739
|
|
9
|
(HPO:0000482)
|
Microcornea |
|
|
|
|
102 / 7739
|
|
10
|
(HPO:0000490)
|
Deeply set eye |
|
|
|
|
131 / 7739
|
|
11
|
(HPO:0000501)
|
Glaucoma |
|
|
|
|
180 / 7739
|
|
12
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
13
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
14
|
(HPO:0000568)
|
Microphthalmia |
|
|
|
|
183 / 7739
|
|
15
|
(HPO:0000648)
|
Optic atrophy |
|
|
|
|
238 / 7739
|
|
16
|
(HPO:0001007)
|
Hirsutism |
rare [HPO:skoehler]
|
|
|
|
91 / 7739
|
|
17
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
|
|
1245 / 7739
|
|
18
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
|
19
|
(HPO:0001371)
|
Flexion contracture |
|
|
|
|
220 / 7739
|
|
20
|
(HPO:0002079)
|
Hypoplasia of the corpus callosum |
|
|
|
|
161 / 7739
|
|
21
|
(HPO:0002120)
|
Cerebral cortical atrophy |
|
|
|
|
187 / 7739
|
|
22
|
(HPO:0002510)
|
Spastic tetraplegia |
|
|
|
|
54 / 7739
|
|
23
|
(HPO:0003199)
|
Decreased muscle mass |
|
|
|
|
27 / 7739
|
|
24
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
25
|
(HPO:0007095)
|
Frontoparietal polymicrogyria |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0008734)
|
Decreased testicular size |
|
|
|
|
105 / 7739
|
|
27
|
(HPO:0008850)
|
Severe postnatal growth retardation |
|
|
|
|
16 / 7739
|
|
28
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|