|
1
|
(HPO:0000175)
|
Cleft palate |
|
|
|
|
349 / 7739
|
|
2
|
(HPO:0000204)
|
Cleft upper lip |
|
|
|
|
193 / 7739
|
|
3
|
(HPO:0000218)
|
High palate |
|
|
|
|
356 / 7739
|
|
4
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
5
|
(HPO:0000270)
|
Delayed cranial suture closure |
|
|
|
|
33 / 7739
|
|
6
|
(HPO:0000278)
|
Retrognathia |
|
|
|
|
100 / 7739
|
|
7
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
8
|
(HPO:0000347)
|
Micrognathia |
|
|
|
|
426 / 7739
|
|
9
|
(HPO:0000457)
|
Depressed nasal ridge |
|
|
|
|
85 / 7739
|
|
10
|
(HPO:0000465)
|
Webbed neck |
|
|
|
|
81 / 7739
|
|
11
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
12
|
(HPO:0000486)
|
Strabismus |
|
|
|
|
576 / 7739
|
|
13
|
(HPO:0000494)
|
Downslanted palpebral fissures |
|
|
|
|
328 / 7739
|
|
14
|
(HPO:0000774)
|
Narrow chest |
|
|
|
|
167 / 7739
|
|
15
|
(HPO:0000878)
|
11 pairs of ribs |
|
|
|
|
19 / 7739
|
|
16
|
(HPO:0000946)
|
Hypoplastic ilia |
|
|
|
|
21 / 7739
|
|
17
|
(HPO:0000980)
|
Pallor |
|
|
|
|
52 / 7739
|
|
18
|
(HPO:0001199)
|
Triphalangeal thumb |
|
|
|
|
56 / 7739
|
|
19
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
20
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
21
|
(HPO:0001622)
|
Premature birth |
|
|
|
|
100 / 7739
|
|
22
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
23
|
(HPO:0001631)
|
Atria septal defect |
|
|
|
|
274 / 7739
|
|
24
|
(HPO:0001680)
|
Coarctation of aorta |
|
|
|
|
57 / 7739
|
|
25
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
26
|
(HPO:0001894)
|
Thrombocytosis |
|
|
|
|
16 / 7739
|
|
27
|
(HPO:0001896)
|
Reticulocytopenia |
|
|
|
|
12 / 7739
|
|
28
|
(HPO:0002669)
|
Osteosarcoma |
|
|
|
|
12 / 7739
|
|
29
|
(HPO:0002697)
|
Parietal foramina |
|
|
|
|
12 / 7739
|
|
30
|
(HPO:0002863)
|
Myelodysplasia |
|
|
|
|
30 / 7739
|
|
31
|
(HPO:0003003)
|
Colon cancer |
|
|
|
|
20 / 7739
|
|
32
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
33
|
(HPO:0008437)
|
Bifid thoracic vertebrae |
|
|
|
|
2 / 7739
|
|
34
|
(HPO:0008447)
|
Hypoplastic coccygeal vertebrae |
|
|
|
|
2 / 7739
|
|
35
|
(HPO:0008475)
|
Hypoplastic sacral vertebrae |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
37
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
38
|
(HPO:0009944)
|
Partial duplication of thumb phalanx |
|
|
|
|
7 / 7739
|
|
39
|
(HPO:0008883)
|
Mild intrauterine growth retardation |
|
|
|
|
2 / 7739
|
|
40
|
(OMIM)
|
Absent radial pulse |
|
|
|
|
1 / 7739
|
|
41
|
(OMIM)
|
Clavicle agenesis |
|
|
|
|
1 / 7739
|
|
42
|
(OMIM)
|
Mild radial hypoplasia |
|
|
|
|
1 / 7739
|
|
43
|
(HPO:0009611)
|
Bifid distal phalanx of the thumb |
|
|
|
|
15 / 7739
|
|
44
|
(OMIM)
|
Anemia, congenital hypoplastic, moderate-severe (normochromic, macrocytic) |
|
|
|
|
1 / 7739
|
|
45
|
(OMIM)
|
Neutropenia, mild |
|
|
|
|
1 / 7739
|
|
46
|
(OMIM)
|
Elevated fetal hemoglobin |
|
|
|
|
2 / 7739
|
|
47
|
(OMIM)
|
Presence of i erythrocyte antigen |
|
|
|
|
1 / 7739
|
|
48
|
(OMIM)
|
Increased myeloid to erythroid ratio (M:E ratio) 10:1-200:1 |
|
|
|
|
1 / 7739
|
|
49
|
(OMIM)
|
Elevated erythrocyte adenine deaminase (eADA) |
|
|
|
|
1 / 7739
|