|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
2
|
(HPO:0000092)
|
Tubular atrophy |
|
|
|
|
28 / 7739
|
|
3
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
|
4
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
|
5
|
(HPO:0000508)
|
Ptosis |
|
|
|
|
459 / 7739
|
|
6
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
|
7
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
|
8
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
|
9
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
|
10
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
12
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
13
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
14
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
15
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
16
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
|
17
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
|
|
15 / 7739
|
|
20
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
21
|
(HPO:0002436)
|
Occipital meningocele |
|
|
|
|
4 / 7739
|
|
22
|
(HPO:0002508)
|
Brainstem dysplasia |
|
|
|
|
5 / 7739
|
|
23
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|
|
24
|
(OMIM)
|
Vision impairment from infancy |
|
|
|
|
1 / 7739
|
|
25
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
26
|
(OMIM)
|
Neonatal tachypnea |
|
|
|
|
1 / 7739
|
|
27
|
(OMIM)
|
Neonatal dyspnea |
|
|
|
|
1 / 7739
|
|
28
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
29
|
(OMIM)
|
Corticomedullary cysts |
|
|
|
|
4 / 7739
|
|
30
|
(OMIM)
|
Interstitial fibrosis |
|
|
|
|
24 / 7739
|
|
31
|
(OMIM)
|
Thickened tubular basement membrane |
|
|
|
|
1 / 7739
|
|
32
|
(OMIM)
|
End-stage renal disease develops in childhood |
|
|
|
|
1 / 7739
|
|
33
|
(HPO:0100259)
|
Postaxial polydactyly |
|
|
|
|
85 / 7739
|
|
34
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
35
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
36
|
(OMIM)
|
Cerebellar heterotopia |
|
|
|
|
1 / 7739
|
|
37
|
(OMIM)
|
Hypoplasia and displacement of the corticospinal fibers within the brainstem |
|
|
|
|
1 / 7739
|