|
1
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Very frequent [Orphanet]
|
|
|
|
328 / 7739
|
|
2
|
(HPO:0000518)
|
Cataract |
Very frequent [Orphanet]
|
|
12730114
|
IBIS
|
454 / 7739
|
|
3
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
12730114
|
IBIS
|
32 / 7739
|
|
4
|
(HPO:0008024)
|
Congenital nuclear cataract |
|
|
|
|
5 / 7739
|
|
5
|
(HPO:0010693)
|
Pulverulent cataract |
|
|
|
|
6 / 7739
|
|
6
|
(OMIM)
|
'Sunflower' cataract (in some patients) |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Normal serum iron |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Normal transferrin saturation |
|
|
|
|
2 / 7739
|
|
9
|
(OMIM)
|
Normal red cell counts |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Elevated ferritin L subunit |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Serum ferritin hyperglycosylation |
|
|
|
|
1 / 7739
|