|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000286)
|
Epicanthus |
|
|
|
|
371 / 7739
|
|
3
|
(HPO:0000316)
|
Hypertelorism |
|
|
|
|
644 / 7739
|
|
4
|
(HPO:0000470)
|
Short neck |
|
|
|
|
345 / 7739
|
|
5
|
(HPO:0000957)
|
Cafe-au-lait spot |
|
|
|
|
84 / 7739
|
|
6
|
(HPO:0001629)
|
Ventricular septal defect |
|
|
|
|
316 / 7739
|
|
7
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
8
|
(HPO:0002667)
|
Nephroblastoma |
Rare [HPO:probinson]
|
|
|
|
30 / 7739
|
|
9
|
(HPO:0002885)
|
Medulloblastoma |
|
|
|
|
20 / 7739
|
|
10
|
(HPO:0003006)
|
Neuroblastoma |
Rare [HPO:probinson]
|
|
|
|
16 / 7739
|
|
11
|
(HPO:0003221)
|
Chromosomal breakage induced by crosslinking agents |
|
|
|
|
8 / 7739
|
|
12
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
13
|
(HPO:0009778)
|
Short thumb |
|
|
|
|
50 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|