|
1
|
(HPO:0000822)
|
Hypertension |
|
|
|
|
224 / 7739
|
|
2
|
(HPO:0000823)
|
Delayed puberty |
|
|
|
|
65 / 7739
|
|
3
|
(HPO:0000951)
|
Abnormality of the skin |
|
|
|
|
147 / 7739
|
|
4
|
(HPO:0001385)
|
Hip dysplasia |
|
|
|
|
242 / 7739
|
|
5
|
(HPO:0001658)
|
Myocardial infarction |
|
|
|
|
30 / 7739
|
|
6
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
7
|
(HPO:0002634)
|
Arteriosclerosis |
|
|
|
|
3 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004589)
|
Dysplasia of second lumbar vertebra |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0004963)
|
Calcification of the aorta |
|
|
|
|
3 / 7739
|
|
11
|
(HPO:0007768)
|
Central retinal vessel vascular tortuosity |
|
|
|
|
2 / 7739
|
|
12
|
(HPO:0008014)
|
Central fundal arteriolar microaneurysms |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0009803)
|
Short phalanx of finger |
|
|
|
|
79 / 7739
|
|
14
|
(HPO:0012622)
|
Chronic kidney disease |
|
|
|
|
32 / 7739
|
|
15
|
(OMIM)
|
Glomeruli appear cystic |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Perforated gastric ulcer |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Hip dysplasia, Perthes-like |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Serum cholesterol, triglycerides, and lipoprotein electrophoresis all normal |
|
|
|
|
1 / 7739
|
|
19
|
(OMIM)
|
Mechanical hemolysis |
|
|
|
|
1 / 7739
|
|
20
|
(OMIM)
|
Stiff |
|
|
|
|
1 / 7739
|
|
21
|
(OMIM)
|
Arteriosclerosis, early-onset medial calcific, aorta and peripheral arteries |
|
|
|
|
1 / 7739
|
|
22
|
(OMIM)
|
Wide pulse pressure |
|
|
|
|
1 / 7739
|
|
23
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|