|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
17617513; 16682973
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000480)
|
Retinal coloboma |
|
|
17617513; 16682973
|
IBIS
|
16 / 7739
|
|
3
|
(HPO:0000547)
|
Tapetoretinal degeneration |
|
|
17617513
|
IBIS
|
11 / 7739
|
|
4
|
(HPO:0000639)
|
Nystagmus |
|
|
16682973
|
IBIS
|
555 / 7739
|
|
5
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
20690115; 16682973
|
IBIS
|
54 / 7739
|
|
6
|
(HPO:0000803)
|
Renal cortical cysts |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
17617513; 20690115; 16682973
|
IBIS
|
413 / 7739
|
|
9
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
10
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
11
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
17617513
|
IBIS
|
25 / 7739
|
|
12
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
17617513; 16682973
|
IBIS
|
15 / 7739
|
|
13
|
(HPO:0002404)
|
Thickened superior cerebellar peduncle |
|
|
|
|
4 / 7739
|
|
14
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
17617513; 20690115
|
IBIS
|
27 / 7739
|
|
15
|
(HPO:0002790)
|
Neonatal breathing dysregulation |
|
|
20690115
|
IBIS
|
7 / 7739
|
|
16
|
(HPO:0002871)
|
Central apnea |
|
|
|
|
10 / 7739
|
|
17
|
(HPO:0002876)
|
Episodic tachypnea |
|
|
17617513
|
IBIS
|
6 / 7739
|
|
18
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
|
19
|
(HPO:0004727)
|
Impaired renal concentrating ability |
|
|
|
|
6 / 7739
|
|
20
|
(HPO:0007875)
|
Congenital blindness |
|
|
16682973
|
IBIS
|
9 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
22
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
23
|
(HPO:0000103)
|
Polyuria |
|
|
17617513
|
IBIS
|
60 / 7739
|
|
24
|
(HPO:0001959)
|
Polydipsia |
|
|
17617513
|
IBIS
|
43 / 7739
|
|
25
|
(HPO:0001903)
|
Anemia |
|
|
17617513
|
IBIS
|
289 / 7739
|
|
26
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
17617513
|
IBIS
|
113 / 7739
|
|
27
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
17617513
|
IBIS
|
32 / 7739
|
|
28
|
(HPO:0000588)
|
Optic nerve coloboma |
|
|
17617513
|
IBIS
|
27 / 7739
|
|
29
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
17617513
|
IBIS
|
57 / 7739
|
|
30
|
(HPO:0002104)
|
Apnea |
|
|
17617513
|
IBIS
|
106 / 7739
|
|
31
|
(HPO:0001290)
|
Generalized hypotonia |
|
|
20690115
|
IBIS
|
51 / 7739
|
|
32
|
(HPO:0002361)
|
Psychomotor deterioration |
|
|
20690115
|
IBIS
|
26 / 7739
|
|
33
|
(HPO:0000546)
|
Retinal degeneration |
|
|
16682973
|
IBIS
|
61 / 7739
|
|
34
|
(HPO:0011398)
|
Central hypotonia |
|
|
16682973
|
IBIS
|
12 / 7739
|
|
35
|
(HPO:0001263)
|
Global developmental delay |
|
|
16682973
|
IBIS
|
853 / 7739
|