|
1
|
(HPO:0000028)
|
Cryptorchidism |
rare [HPO:skoehler]
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0008689)
|
Bilateral cryptorchidism |
|
|
|
|
38 / 7739
|
|
3
|
(HPO:0000086)
|
Ectopic kidney |
rare [HPO:skoehler]
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
5
|
(HPO:0000800)
|
Cystic renal dysplasia |
rare [HPO:skoehler]
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
7
|
(HPO:0001257)
|
Spasticity |
|
|
|
|
251 / 7739
|
|
8
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
9
|
(HPO:0001321)
|
Cerebellar hypoplasia |
rare [HPO:skoehler]
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0001347)
|
Hyperreflexia |
|
|
|
|
363 / 7739
|
|
11
|
(HPO:0002119)
|
Ventriculomegaly |
|
|
|
|
253 / 7739
|
|
12
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
13
|
(HPO:0005484)
|
Postnatal microcephaly |
|
|
|
|
32 / 7739
|
|
14
|
(HPO:0000519)
|
Congenital cataract |
|
|
|
|
73 / 7739
|
|
15
|
(HPO:0000077)
|
Abnormality of the kidney |
|
|
|
|
73 / 7739
|
|
16
|
(OMIM)
|
Developmental delay, profound |
|
|
|
|
6 / 7739
|
|
17
|
(OMIM)
|
Intraparenchymal brain hemorrhage, multifocal |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Cystic destruction of brain tissue, including basal ganglia |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Porencephalic changes |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Subependymal calcifications |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Reduced white matter volume |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Atrophic pons (in some) |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
24
|
(HPO:0003577)
|
Congenital onset |
|
|
|
|
133 / 7739
|