|
1
|
(HPO:0000027)
|
Azoospermia |
|
|
|
|
28 / 7739
|
|
2
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
3
|
(HPO:0000957)
|
Cafe-au-lait spot |
rare [HPO:skoehler]
|
|
|
|
84 / 7739
|
|
4
|
(HPO:0007429)
|
Few cafe-au-lait spots |
|
|
|
|
7 / 7739
|
|
5
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
|
|
|
|
11 / 7739
|
|
6
|
(HPO:0001510)
|
Growth delay |
rare [HPO:skoehler]
|
|
|
|
295 / 7739
|
|
7
|
(HPO:0001744)
|
Splenomegaly |
|
|
|
|
337 / 7739
|
|
8
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
9
|
(HPO:0002240)
|
Hepatomegaly |
|
|
|
|
467 / 7739
|
|
10
|
(HPO:0003281)
|
Increased serum ferritin |
|
|
|
|
32 / 7739
|
|
11
|
(OMIM)
|
Marked pallor of mucous membranes |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Gonadal atrophy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Marked skin pallor |
|
|
|
|
1 / 7739
|
|
14
|
(OMIM)
|
Dysfunction of hypothalamo-pituitary-gonadal axis |
|
|
|
|
1 / 7739
|
|
15
|
(OMIM)
|
Adrenal failure |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Thyroid failure (in some patients) |
|
|
|
|
1 / 7739
|
|
17
|
(OMIM)
|
Anemia, severe |
|
|
|
|
1 / 7739
|
|
18
|
(OMIM)
|
Hypochromia |
|
|
|
|
6 / 7739
|
|
19
|
(MedDRA:10027540)
|
Microcytosis |
|
|
|
|
5 / 7739
|
|
20
|
(OMIM)
|
Low serum transferrin |
|
|
|
|
1 / 7739
|
|
21
|
(MedDRA:10050771)
|
Transferrin saturation increased |
|
|
|
|
3 / 7739
|
|
22
|
(OMIM)
|
Aniso-poikilocytosis on blood smear |
|
|
|
|
1 / 7739
|
|
23
|
(OMIM)
|
Erythropoietic hyperplasia of bone marrow |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|