|
1
|
(HPO:0000093)
|
Proteinuria |
|
|
|
|
169 / 7739
|
|
2
|
(HPO:0000100)
|
Nephrotic syndrome |
|
|
|
|
83 / 7739
|
|
3
|
(HPO:0001518)
|
Small for gestational age |
|
|
|
|
107 / 7739
|
|
4
|
(HPO:0001648)
|
Cor pulmonale |
|
|
|
|
16 / 7739
|
|
5
|
(HPO:0002086)
|
Abnormality of the respiratory system |
|
|
|
|
17 / 7739
|
|
6
|
(HPO:0002720)
|
IgA deficiency |
|
|
|
|
33 / 7739
|
|
7
|
(HPO:0002721)
|
Immunodeficiency |
|
|
|
|
97 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0006462)
|
Generalized bone demineralization |
|
|
|
|
11 / 7739
|
|
10
|
(HPO:0006577)
|
Macronodular cirrhosis |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0007759)
|
Opacification of the corneal stroma |
|
|
|
|
77 / 7739
|
|
12
|
(HPO:0007957)
|
Corneal opacity |
|
|
|
|
84 / 7739
|
|
13
|
(HPO:0008155)
|
Mucopolysacchariduria |
|
|
|
|
6 / 7739
|
|
14
|
(OMIM)
|
Demineralized bones |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Chondroitin-6-sulfaturia |
|
|
|
|
1 / 7739
|
|
16
|
(OMIM)
|
Acid mucopolysacchariduria |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Truncal shortening |
|
|
|
|
2 / 7739
|
|
18
|
(OMIM)
|
Severe pulmonary disease |
|
|
|
|
1 / 7739
|
|
19
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
20
|
(HPO:0002843)
|
Abnormality of T cells |
|
|
|
|
7 / 7739
|