|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000546)
|
Retinal degeneration |
|
|
|
|
61 / 7739
|
|
3
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
4
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
7
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
12
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
13
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
|
|
22 / 7739
|
|
14
|
(HPO:0002404)
|
Thickened superior cerebellar peduncle |
|
|
|
|
4 / 7739
|
|
15
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
16
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
17
|
(HPO:0005957)
|
Breathing dysregulation |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0011933)
|
Elongated superior cerebellar peduncle |
|
|
|
|
6 / 7739
|
|
19
|
(HPO:0100951)
|
Enlarged fossa interpeduncularis |
|
|
|
|
4 / 7739
|
|
20
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
21
|
(OMIM)
|
Microcysts |
|
|
|
|
1 / 7739
|
|
22
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
23
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
24
|
(OMIM)
|
Deep posterior interpeduncular fossa |
|
|
|
|
4 / 7739
|
|
25
|
(OMIM)
|
Thick and elongated superior cerebellar peduncles |
|
|
|
|
4 / 7739
|
|
26
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|