|
1
|
(HPO:0000090)
|
Nephronophthisis |
|
|
20512146
|
IBIS
|
42 / 7739
|
|
2
|
(HPO:0000107)
|
Renal cyst |
|
|
20512146
|
IBIS
|
126 / 7739
|
|
3
|
(HPO:0000238)
|
Hydrocephalus |
|
|
20036350
|
IBIS
|
278 / 7739
|
|
4
|
(HPO:0000256)
|
Macrocephaly |
|
|
20036350
|
IBIS
|
298 / 7739
|
|
5
|
(HPO:0000268)
|
Dolichocephaly |
|
|
20036350
|
IBIS
|
144 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
|
|
20512146
|
IBIS
|
644 / 7739
|
|
7
|
(HPO:0000565)
|
Esotropia |
|
|
20036350
|
IBIS
|
58 / 7739
|
|
8
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
20512146
|
IBIS
|
26 / 7739
|
|
9
|
(HPO:0000639)
|
Nystagmus |
|
|
20512146
|
IBIS
|
555 / 7739
|
|
10
|
(HPO:0000657)
|
Oculomotor apraxia |
|
|
20512146
|
IBIS
|
54 / 7739
|
|
11
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
20036350
|
IBIS
|
119 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
20036350
|
IBIS
|
853 / 7739
|
|
13
|
(HPO:0001508)
|
Failure to thrive |
|
|
20036350
|
IBIS
|
454 / 7739
|
|
14
|
(HPO:0002007)
|
Frontal bossing |
|
|
20036350
|
IBIS
|
366 / 7739
|
|
15
|
(HPO:0002084)
|
Encephalocele |
|
|
20512146
|
IBIS
|
70 / 7739
|
|
16
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
20036350
|
IBIS
|
25 / 7739
|
|
17
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
20512146; 20036350
|
IBIS
|
27 / 7739
|
|
18
|
(HPO:0011933)
|
Elongated superior cerebellar peduncle |
|
|
20036350
|
IBIS
|
6 / 7739
|
|
19
|
(HPO:0100951)
|
Enlarged fossa interpeduncularis |
|
|
20036350
|
IBIS
|
4 / 7739
|
|
20
|
(HPO:0000083)
|
Renal insufficiency |
|
|
20036350
|
IBIS
|
232 / 7739
|
|
21
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
20036350
|
IBIS
|
482 / 7739
|
|
22
|
(HPO:0001319)
|
Neonatal hypotonia |
|
|
20036350
|
IBIS
|
101 / 7739
|
|
23
|
(HPO:0001583)
|
Rotary nystagmus |
|
|
20036350
|
IBIS
|
7 / 7739
|
|
24
|
(HPO:0011968)
|
Feeding difficulties |
|
|
20036350
|
IBIS
|
240 / 7739
|
|
25
|
(HPO:0011330)
|
Metopic synostosis |
|
|
20036350
|
IBIS
|
3 / 7739
|
|
26
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
20036350
|
IBIS
|
37 / 7739
|
|
27
|
(HPO:0100543)
|
Cognitive impairment |
|
|
20036350
|
IBIS
|
230 / 7739
|
|
28
|
(HPO:0001320)
|
Cerebellar vermis hypoplasia |
|
|
20036350
|
IBIS
|
57 / 7739
|
|
29
|
(HPO:0002126)
|
Polymicrogyria |
|
|
20512146
|
IBIS
|
64 / 7739
|
|
30
|
(HPO:0001305)
|
Dandy-Walker malformation |
|
|
20512146
|
IBIS
|
79 / 7739
|
|
31
|
(HPO:0000482)
|
Microcornea |
|
|
20512146
|
IBIS
|
102 / 7739
|
|
32
|
(HPO:0005565)
|
Reduced renal corticomedullary differentiation |
|
|
20512146
|
IBIS
|
5 / 7739
|
|
33
|
(HPO:0002910)
|
Elevated hepatic transaminases |
|
|
20512146
|
IBIS
|
158 / 7739
|
|
34
|
(HPO:0001408)
|
Bile duct proliferation |
|
|
20512146
|
IBIS
|
22 / 7739
|
|
35
|
(HPO:0010442)
|
Polydactyly |
|
|
20512146
|
IBIS
|
69 / 7739
|
|
36
|
(HPO:0006487)
|
Bowing of the long bones |
|
|
20512146
|
IBIS
|
95 / 7739
|
|
37
|
(HPO:0001636)
|
Tetralogy of Fallot |
|
|
20512146
|
IBIS
|
104 / 7739
|
|
38
|
(HPO:0100648)
|
Neoplasm of the tongue |
|
|
20512146
|
IBIS
|
2 / 7739
|
|
39
|
(HPO:0000054)
|
Micropenis |
|
|
20512146
|
IBIS
|
257 / 7739
|
|
40
|
(HPO:0012385)
|
Camptodactyly |
|
|
20512146
|
IBIS
|
113 / 7739
|
|
41
|
(HPO:0000190)
|
Abnormality of oral frenula |
|
|
20512146
|
IBIS
|
3 / 7739
|
|
42
|
(HPO:0000175)
|
Cleft palate |
|
|
20512146
|
IBIS
|
349 / 7739
|
|
43
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
20512146
|
IBIS
|
358 / 7739
|