|
1
|
(HPO:0000069)
|
Abnormality of the ureter |
Occasional [Orphanet]
|
|
|
|
47 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
Occasional [Orphanet]
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
4
|
(HPO:0000307)
|
Pointed chin |
Frequent [Orphanet]
|
|
|
|
45 / 7739
|
|
5
|
(HPO:0000311)
|
Round face |
Frequent [Orphanet]
|
|
|
|
104 / 7739
|
|
6
|
(HPO:0000316)
|
Hypertelorism |
Occasional [Orphanet]
|
|
|
|
644 / 7739
|
|
7
|
(HPO:0000322)
|
Short philtrum |
Occasional [Orphanet]
|
|
|
|
130 / 7739
|
|
8
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
9
|
(HPO:0000490)
|
Deeply set eye |
Occasional [Orphanet]
|
|
|
|
131 / 7739
|
|
10
|
(HPO:0000494)
|
Downslanted palpebral fissures |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
11
|
(HPO:0000615)
|
Abnormality of the pupil |
Occasional [Orphanet]
|
|
|
|
39 / 7739
|
|
12
|
(HPO:0000772)
|
Abnormality of the ribs |
Occasional [Orphanet]
|
|
|
|
146 / 7739
|
|
13
|
(HPO:0000822)
|
Hypertension |
Occasional [Orphanet]
|
|
|
|
224 / 7739
|
|
14
|
(HPO:0001131)
|
Corneal dystrophy |
Very frequent [Orphanet]
|
|
|
|
56 / 7739
|
|
15
|
(HPO:0001511)
|
Intrauterine growth retardation |
Frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
16
|
(HPO:0001629)
|
Ventricular septal defect |
Very frequent [Orphanet]
|
|
|
|
316 / 7739
|
|
17
|
(HPO:0001631)
|
Atria septal defect |
Occasional [Orphanet]
|
|
|
|
274 / 7739
|
|
18
|
(HPO:0002007)
|
Frontal bossing |
Frequent [Orphanet]
|
|
|
|
366 / 7739
|
|
19
|
(HPO:0002240)
|
Hepatomegaly |
Very frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
20
|
(HPO:0002750)
|
Delayed skeletal maturation |
Occasional [Orphanet]
|
|
|
|
250 / 7739
|
|
21
|
(HPO:0002997)
|
Abnormality of the ulna |
Occasional [Orphanet]
|
|
|
|
75 / 7739
|
|
22
|
(HPO:0003298)
|
Spina bifida occulta |
Frequent [Orphanet]
|
|
|
|
67 / 7739
|
|
23
|
(HPO:0003312)
|
Abnormal form of the vertebral bodies |
Frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
24
|
(HPO:0003422)
|
Vertebral segmentation defect |
Frequent [Orphanet]
|
|
|
|
95 / 7739
|
|
25
|
(HPO:0004209)
|
Clinodactyly of the 5th finger |
Occasional [Orphanet]
|
|
|
|
288 / 7739
|
|
26
|
(HPO:0004414)
|
Abnormality of the pulmonary artery |
Occasional [Orphanet]
|
|
|
|
50 / 7739
|
|
27
|
(HPO:0005105)
|
Abnormal nasal morphology |
Frequent [Orphanet]
|
|
|
|
114 / 7739
|
|
28
|
(HPO:0008678)
|
Renal hypoplasia/aplasia |
Occasional [Orphanet]
|
|
|
|
127 / 7739
|
|
29
|
(HPO:0009882)
|
Short distal phalanx of finger |
Occasional [Orphanet]
|
|
|
|
125 / 7739
|
|
30
|
(HPO:0100585)
|
Telangiectasia of the skin |
Frequent [Orphanet]
|
|
|
|
66 / 7739
|
|
31
|
(HPO:0000411)
|
Protruding ear |
Frequent [Orphanet]
|
|
|
|
140 / 7739
|
|
32
|
(HPO:0001396)
|
Cholestasis |
Very frequent [Orphanet]
|
|
|
|
136 / 7739
|
|
33
|
(HPO:0005248)
|
Intrahepatic biliary atresia |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
34
|
(HPO:0000248)
|
Brachycephaly |
Occasional [Orphanet]
|
|
|
|
222 / 7739
|
|
35
|
(HPO:0012368)
|
Flat face |
Occasional [Orphanet]
|
|
|
|
106 / 7739
|
|
36
|
(HPO:0000277)
|
Abnormality of the mandible |
Occasional [Orphanet]
|
|
|
|
394 / 7739
|
|
37
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
38
|
(HPO:0001428)
|
Somatic mutation |
Occasional [Orphanet]
|
|
|
|
100 / 7739
|
|
39
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
40
|
(HPO:0000035)
|
Abnormality of the testis |
Occasional [Orphanet]
|
|
|
|
296 / 7739
|
|
41
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Occasional [Orphanet]
|
|
|
|
156 / 7739
|
|
42
|
(HPO:0100692)
|
Increased corneal curvature |
Occasional [Orphanet]
|
|
|
|
13 / 7739
|