|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
4
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
5
|
(HPO:0001999)
|
Abnormal facial shape |
|
|
|
|
169 / 7739
|
|
6
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
7
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
|
|
113 / 7739
|
|
8
|
(OMIM)
|
Normal cellular bone marrow infiltrated with small lymphocytes |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Increased spontaneous chromosome breakage in blood and fibroblasts |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Increased mitomycin C-induced chromosome damage |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Growth retardation, pre- and postnatal |
|
|
|
|
3 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|