1
|
(HPO:0000083)
|
Renal insufficiency |
Occasional [Orphanet]
|
|
|
|
232 / 7739
|
2
|
(HPO:0000112)
|
Nephropathy |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
3
|
(HPO:0000238)
|
Hydrocephalus |
Occasional [Orphanet]
|
|
|
|
278 / 7739
|
4
|
(HPO:0000276)
|
Long face |
Frequent [Orphanet]
|
|
|
|
109 / 7739
|
5
|
(HPO:0000341)
|
Narrow forehead |
Frequent [Orphanet]
|
|
|
|
96 / 7739
|
6
|
(HPO:0000426)
|
Prominent nasal bridge |
Occasional [Orphanet]
|
|
|
|
121 / 7739
|
7
|
(HPO:0000463)
|
Anteverted nares |
Occasional [Orphanet]
|
|
|
|
305 / 7739
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
9
|
(HPO:0000508)
|
Ptosis |
Frequent [Orphanet]
|
|
|
|
459 / 7739
|
10
|
(HPO:0000612)
|
Iris coloboma |
Frequent [Orphanet]
|
|
|
|
116 / 7739
|
11
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
12
|
(HPO:0000864)
|
Abnormality of the hypothalamus-pituitary axis |
Occasional [Orphanet]
|
|
|
|
23 / 7739
|
13
|
(HPO:0001161)
|
Hand polydactyly |
Occasional [Orphanet]
|
|
|
|
71 / 7739
|
14
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
15
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [Orphanet]
|
|
|
|
990 / 7739
|
16
|
(HPO:0001829)
|
Foot polydactyly |
Occasional [Orphanet]
|
|
|
|
41 / 7739
|
17
|
(HPO:0002084)
|
Encephalocele |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
18
|
(HPO:0002104)
|
Apnea |
Very frequent [Orphanet]
|
|
|
|
106 / 7739
|
19
|
(HPO:0002251)
|
Aganglionic megacolon |
Occasional [Orphanet]
|
|
|
|
78 / 7739
|
20
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
21
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
22
|
(HPO:0002553)
|
Highly arched eyebrow |
Occasional [Orphanet]
|
|
|
|
92 / 7739
|
23
|
(HPO:0030680)
|
Abnormality of cardiovascular system morphology |
Occasional [Orphanet]
|
|
|
|
355 / 7739
|
24
|
(HPO:0002650)
|
Scoliosis |
Occasional [Orphanet]
|
|
|
|
705 / 7739
|
25
|
(HPO:0002335)
|
Agenesis of cerebellar vermis |
|
|
|
|
25 / 7739
|
26
|
(HPO:0006817)
|
Aplasia/Hypoplasia of the cerebellar vermis |
|
|
|
|
15 / 7739
|
27
|
(HPO:0007370)
|
Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
|
|
|
|
180 / 7739
|
28
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
29
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
30
|
(HPO:0002536)
|
Abnormal cortical gyration |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
31
|
(HPO:0002793)
|
Abnormal pattern of respiration |
Very frequent [Orphanet]
|
|
|
|
26 / 7739
|
32
|
(HPO:0000357)
|
Abnormal location of ears |
Frequent [Orphanet]
|
|
|
|
328 / 7739
|
33
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
34
|
(HPO:0000479)
|
Abnormality of the retina |
Frequent [Orphanet]
|
|
|
|
74 / 7739
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
36
|
(HPO:0000090)
|
Nephronophthisis |
|
|
|
|
42 / 7739
|
37
|
(HPO:0000092)
|
Tubular atrophy |
|
|
|
|
28 / 7739
|
38
|
(HPO:0000108)
|
Renal corticomedullary cysts |
|
|
|
|
21 / 7739
|
39
|
(HPO:0000113)
|
Polycystic kidney dysplasia |
|
|
|
|
75 / 7739
|
40
|
(HPO:0000154)
|
Wide mouth |
|
|
|
|
137 / 7739
|
41
|
(HPO:0000550)
|
Undetectable electroretinogram |
|
|
|
|
25 / 7739
|
42
|
(HPO:0000556)
|
Retinal dystrophy |
|
|
|
|
65 / 7739
|
43
|
(HPO:0000567)
|
Chorioretinal coloboma |
|
|
|
|
26 / 7739
|
44
|
(HPO:0000618)
|
Blindness |
|
|
|
|
124 / 7739
|
45
|
(HPO:0001162)
|
Postaxial hand polydactyly |
|
|
|
|
119 / 7739
|
46
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
47
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
48
|
(HPO:0001397)
|
Hepatic steatosis |
|
|
|
|
75 / 7739
|
49
|
(HPO:0001830)
|
Postaxial foot polydactyly |
|
|
|
|
37 / 7739
|
50
|
(HPO:0002094)
|
Dyspnea |
|
|
|
|
132 / 7739
|
51
|
(HPO:0002198)
|
Dilated fourth ventricle |
|
|
|
|
12 / 7739
|
52
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
53
|
(HPO:0002282)
|
Heterotopia |
|
|
|
|
21 / 7739
|
54
|
(HPO:0002365)
|
Hypoplasia of the brainstem |
|
|
|
|
41 / 7739
|
55
|
(HPO:0002419)
|
Molar tooth sign on MRI |
|
|
|
|
27 / 7739
|
56
|
(HPO:0002436)
|
Occipital meningocele |
|
|
|
|
4 / 7739
|
57
|
(HPO:0002508)
|
Brainstem dysplasia |
|
|
|
|
5 / 7739
|
58
|
(HPO:0002789)
|
Tachypnea |
|
|
|
|
48 / 7739
|
59
|
(HPO:0003774)
|
Stage 5 chronic kidney disease |
|
|
|
|
78 / 7739
|
60
|
(HPO:0005576)
|
Tubulointerstitial fibrosis |
|
|
|
|
32 / 7739
|
61
|
(HPO:0006887)
|
Intellectual disability, progressive |
|
|
|
|
68 / 7739
|
62
|
(HPO:0010864)
|
Intellectual disability, severe |
|
|
|
|
120 / 7739
|