|
1
|
(HPO:0000572)
|
Visual loss |
Frequent [Orphanet]
|
|
|
|
272 / 7739
|
|
2
|
(HPO:0002141)
|
Gait imbalance |
Frequent [Orphanet]
|
|
|
|
55 / 7739
|
|
3
|
(HPO:0002488)
|
Acute leukemia |
Very frequent [Orphanet]
|
|
|
|
29 / 7739
|
|
4
|
(HPO:0002093)
|
Respiratory insufficiency |
Very frequent [Orphanet]
|
|
|
|
410 / 7739
|
|
5
|
(HPO:0100724)
|
Hypercoagulability |
Frequent [Orphanet]
|
|
|
|
15 / 7739
|
|
6
|
(HPO:0000978)
|
Bruising susceptibility |
Frequent [Orphanet]
|
|
|
|
123 / 7739
|
|
7
|
(HPO:0002716)
|
Lymphadenopathy |
Occasional [Orphanet]
|
|
|
|
129 / 7739
|
|
8
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
|
9
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
10
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
11
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
|
12
|
(HPO:0001876)
|
Pancytopenia |
Very frequent [Orphanet]
|
|
|
|
89 / 7739
|
|
13
|
(HPO:0000389)
|
Chronic otitis media |
Frequent [Orphanet]
|
|
|
|
64 / 7739
|
|
14
|
(HPO:0003010)
|
Prolonged bleeding time |
Very frequent [Orphanet]
|
|
|
|
88 / 7739
|
|
15
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
|
16
|
(HPO:0000980)
|
Pallor |
Frequent [Orphanet]
|
|
|
|
52 / 7739
|
|
17
|
(HPO:0001004)
|
Lymphedema |
Very frequent [Orphanet]
|
|
|
|
62 / 7739
|
|
18
|
(HPO:0002240)
|
Hepatomegaly |
Frequent [Orphanet]
|
|
|
|
467 / 7739
|
|
19
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
20
|
(HPO:0002017)
|
Nausea and vomiting |
Frequent [Orphanet]
|
|
|
|
134 / 7739
|
|
21
|
(HPO:0001945)
|
Fever |
Frequent [Orphanet]
|
|
|
|
218 / 7739
|
|
22
|
(HPO:0002170)
|
Intracranial hemorrhage |
Frequent [Orphanet]
|
|
|
|
40 / 7739
|
|
23
|
(HPO:0001974)
|
Leukocytosis |
Occasional [Orphanet]
|
|
|
|
33 / 7739
|
|
24
|
(HPO:0000286)
|
Epicanthus |
rare [HPO:skoehler]
|
|
|
|
371 / 7739
|
|
25
|
(HPO:0000465)
|
Webbed neck |
rare [HPO:skoehler]
|
|
|
|
81 / 7739
|
|
26
|
(HPO:0000601)
|
Hypotelorism |
rare [HPO:skoehler]
|
|
|
|
83 / 7739
|
|
27
|
(HPO:0001182)
|
Tapered finger |
rare [HPO:skoehler]
|
|
|
|
93 / 7739
|
|
28
|
(HPO:0002167)
|
Neurological speech impairment |
Very frequent [Orphanet]
|
|
|
|
308 / 7739
|
|
29
|
(HPO:0002863)
|
Myelodysplasia |
|
|
|
|
30 / 7739
|
|
30
|
(HPO:0100658)
|
Cellulitis |
|
|
|
|
7 / 7739
|
|
31
|
(OMIM)
|
Deafness, congenital sensorineural, profound (in some patients) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Long, tapering fingers |
|
|
|
|
2 / 7739
|
|
33
|
(OMIM)
|
Cellulitis, recurrent |
|
|
|
|
2 / 7739
|
|
34
|
(OMIM)
|
Warts, generalized (in some patients) |
|
|
|
|
1 / 7739
|
|
35
|
(OMIM)
|
Lymphedema, lower extremities |
|
|
|
|
3 / 7739
|
|
36
|
(OMIM)
|
Bone marrow monosomy 7 |
|
|
|
|
1 / 7739
|
|
37
|
(HPO:0004808)
|
Acute myeloid leukemia |
|
|
|
|
14 / 7739
|
|
38
|
(HPO:0004325)
|
Decreased body weight |
Frequent [Orphanet]
|
|
|
|
492 / 7739
|
|
39
|
(HPO:0012795)
|
Abnormality of the optic disc |
Frequent [Orphanet]
|
|
|
|
187 / 7739
|
|
40
|
(HPO:0001909)
|
Leukemia |
Occasional [Orphanet]
|
|
|
|
46 / 7739
|
|
41
|
(HPO:0001324)
|
Muscle weakness |
Very frequent [Orphanet]
|
|
|
|
859 / 7739
|
|
42
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|