|
1
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
|
2
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
3
|
(HPO:0001895)
|
Normochromic anemia |
|
|
|
|
7 / 7739
|
|
4
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
|
5
|
(HPO:0001972)
|
Macrocytic anemia |
|
|
|
|
26 / 7739
|
|
6
|
(OMIM)
|
Reduced or absent erythroid precursors in bone marrow |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Reticulocytopenia LABORATORY : Elevated erythrocyte adenosine deaminase activity |
|
|
|
|
1 / 7739
|
|
8
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
9
|
(HPO:0030270)
|
Elevated red cell adenosine deaminase activity |
|
|
|
|
4 / 7739
|