|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000369)
|
Low-set ears |
|
|
|
|
372 / 7739
|
|
3
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
4
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
5
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
6
|
(HPO:0005912)
|
Biliary atresia |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0009777)
|
Absent thumb |
|
|
|
|
31 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(OMIM)
|
Patient cells show increased chromosome breakage |
|
|
|
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
11
|
(HPO:0003593)
|
Infantile onset |
|
|
|
|
249 / 7739
|
|
12
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|