|
1
|
(HPO:0100769)
|
Synovitis |
Occasional [Orphanet]
|
|
|
|
86 / 7739
|
|
2
|
(HPO:0000821)
|
Hypothyroidism |
Occasional [Orphanet]
|
|
|
|
141 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0012090)
|
Abnormality of pancreas morphology |
Occasional [Orphanet]
|
|
|
|
31 / 7739
|
|
5
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
|
7
|
(HPO:0001931)
|
Hypochromic anemia |
|
|
|
|
5 / 7739
|
|
8
|
(HPO:0010978)
|
Abnormality of immune system physiology |
Frequent [Orphanet]
|
|
|
|
148 / 7739
|
|
9
|
(HPO:0012239)
|
Atransferrinemia |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Hemosiderosis, heart |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
|
|
32 / 7739
|
|
12
|
(OMIM)
|
Transferrin absent |
|
|
|
|
1 / 7739
|
|
13
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
14
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Frequent [Orphanet]
|
|
|
|
34 / 7739
|
|
15
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|