|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000072)
|
Hydroureter |
|
|
|
|
146 / 7739
|
|
3
|
(HPO:0000126)
|
Hydronephrosis |
|
|
|
|
119 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001250)
|
Seizures |
|
|
|
|
1245 / 7739
|
|
6
|
(HPO:0002719)
|
Recurrent infections |
|
|
|
|
107 / 7739
|
|
7
|
(HPO:0008736)
|
Hypoplasia of penis |
|
|
|
|
7 / 7739
|
|
8
|
(HPO:0100021)
|
Cerebral palsy |
|
|
|
|
36 / 7739
|
|
9
|
(OMIM)
|
Jaundice, progressive or intermittent |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Hepatic duct hypoplasia |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Cerebral palsy, spastic |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Dysmyelination of the brain and spinal cord |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|