|
1
|
(HPO:0005978)
|
Type II diabetes mellitus |
Occasional [Orphanet]
|
|
|
|
68 / 7739
|
|
2
|
(HPO:0001743)
|
Abnormality of the spleen |
Occasional [Orphanet]
|
|
|
|
37 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0001877)
|
Abnormality of erythrocytes |
Very frequent [Orphanet]
|
|
|
|
18 / 7739
|
|
5
|
(HPO:0002093)
|
Respiratory insufficiency |
Occasional [Orphanet]
|
|
|
|
410 / 7739
|
|
6
|
(HPO:0007400)
|
Irregular hyperpigmentation |
Occasional [Orphanet]
|
|
|
|
72 / 7739
|
|
7
|
(HPO:0004447)
|
Poikilocytosis |
Very frequent [Orphanet]
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0001626)
|
Abnormality of the cardiovascular system |
Occasional [Orphanet]
|
|
|
|
73 / 7739
|
|
9
|
(HPO:0001924)
|
Sideroblastic anemia |
|
|
|
|
12 / 7739
|
|
10
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
11
|
(HPO:0004840)
|
Hypochromic microcytic anemia |
|
|
|
|
15 / 7739
|
|
12
|
(OMIM)
|
Macrocytic anemia in manifesting females |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Pathologic perinuclear mitochondrial iron deposits in erythrocyte precursors |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Low hemoglobin |
|
|
|
|
1 / 7739
|
|
15
|
(HPO:0006568)
|
Increased hepatic glycogen content |
Occasional [Orphanet]
|
|
|
|
34 / 7739
|
|
16
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
17
|
(HPO:0003828)
|
Variable expressivity |
|
|
|
|
130 / 7739
|