1
|
(HPO:0000078)
|
Abnormality of the genital system |
Frequent [Orphanet]
|
|
|
|
33 / 7739
|
2
|
(HPO:0000079)
|
Abnormality of the urinary system |
Frequent [Orphanet]
|
|
|
|
88 / 7739
|
3
|
(HPO:0000457)
|
Depressed nasal ridge |
Occasional [Orphanet]
|
|
|
|
85 / 7739
|
4
|
(HPO:0000980)
|
Pallor |
Very frequent [Orphanet]
|
|
|
|
52 / 7739
|
5
|
(HPO:0001155)
|
Abnormality of the hand |
Frequent [Orphanet]
|
|
|
|
54 / 7739
|
6
|
(HPO:0001972)
|
Macrocytic anemia |
Frequent [Orphanet]
|
|
|
|
26 / 7739
|
7
|
(HPO:0002488)
|
Acute leukemia |
Occasional [Orphanet]
|
|
|
|
29 / 7739
|
8
|
(HPO:0003196)
|
Short nose |
Occasional [Orphanet]
|
|
|
|
264 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
10
|
(HPO:0011675)
|
Arrhythmia |
Very frequent [Orphanet]
|
|
|
|
226 / 7739
|
11
|
(HPO:0002664)
|
Neoplasm |
Occasional [Orphanet]
|
|
|
|
111 / 7739
|
12
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
13
|
(HPO:0002315)
|
Headache |
Frequent [Orphanet]
|
|
|
|
175 / 7739
|
14
|
(HPO:0004325)
|
Decreased body weight |
Very frequent [Orphanet]
|
|
|
|
492 / 7739
|
15
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Frequent [Orphanet]
|
|
|
|
156 / 7739
|
16
|
(HPO:0000174)
|
Abnormality of the palate |
Frequent [Orphanet]
|
|
|
|
298 / 7739
|
17
|
(HPO:0012471)
|
Thick vermilion border |
Occasional [Orphanet]
|
|
|
|
115 / 7739
|
18
|
(HPO:0001324)
|
Muscle weakness |
Frequent [Orphanet]
|
|
|
|
859 / 7739
|
19
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
20
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
21
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
22
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
23
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
24
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
25
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
26
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
27
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
28
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
29
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
30
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
31
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
32
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
33
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
34
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
35
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
36
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
37
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
38
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
39
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
40
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
41
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
42
|
(HPO:0001635)
|
Congestive heart failure |
|
|
|
|
232 / 7739
|
43
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
44
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
45
|
(HPO:0001875)
|
Neutropenia |
|
|
|
|
83 / 7739
|
46
|
(HPO:0001894)
|
Thrombocytosis |
|
|
|
|
16 / 7739
|
47
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
48
|
(HPO:0002669)
|
Osteosarcoma |
|
|
|
|
12 / 7739
|
49
|
(HPO:0002697)
|
Parietal foramina |
|
|
|
|
12 / 7739
|
50
|
(HPO:0002863)
|
Myelodysplasia |
|
|
|
|
30 / 7739
|
51
|
(HPO:0002984)
|
Hypoplasia of the radius |
|
|
|
|
44 / 7739
|
52
|
(HPO:0003003)
|
Colon cancer |
|
|
|
|
20 / 7739
|
53
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
54
|
(HPO:0004810)
|
Congenital hypoplastic anemia |
|
|
|
|
4 / 7739
|
55
|
(HPO:0008437)
|
Bifid thoracic vertebrae |
|
|
|
|
2 / 7739
|
56
|
(HPO:0008447)
|
Hypoplastic coccygeal vertebrae |
|
|
|
|
2 / 7739
|
57
|
(HPO:0008475)
|
Hypoplastic sacral vertebrae |
|
|
|
|
2 / 7739
|
58
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
59
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
60
|
(HPO:0009944)
|
Partial duplication of thumb phalanx |
|
|
|
|
7 / 7739
|
61
|
(HPO:0030270)
|
Elevated red cell adenosine deaminase activity |
|
|
|
|
4 / 7739
|