|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
|
3
|
(HPO:0000571)
|
Hypometric saccades |
|
|
|
|
10 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
|
|
54 / 7739
|
|
6
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
7
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
|
|
57 / 7739
|
|
8
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
|
9
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
|
|
79 / 7739
|
|
10
|
(OMIM)
|
Tubulointerstitial medullary cystic kidney disease |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Hypotonia, mild |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Head 'tilt' in infancy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Gross motor delay, mild |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Cognitive impairment, mild |
|
|
|
|
15 / 7739
|
|
15
|
(OMIM)
|
Impaired balance |
|
|
|
|
3 / 7739
|
|
16
|
(OMIM)
|
Long, thickened cerebellar peduncles |
|
|
|
|
1 / 7739
|