|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0001252)
|
Muscular hypotonia |
|
|
|
|
990 / 7739
|
|
3
|
(HPO:0001324)
|
Muscle weakness |
|
|
|
|
859 / 7739
|
|
4
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
5
|
(HPO:0002664)
|
Neoplasm |
|
|
|
|
111 / 7739
|
|
6
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
7
|
(HPO:0011133)
|
Increased sensitivity to ionizing radiation |
|
|
|
|
2 / 7739
|
|
8
|
(OMIM)
|
Profound neutropenia during chemotherapy |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Excess chromatid gaps and breaks after X-irradiation of cultured lymphocytes |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal radiosensitivity of fibroblasts |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0008947)
|
Infantile muscular hypotonia |
|
|
|
|
482 / 7739
|
|
12
|
(HPO:0010547)
|
Muscle flaccidity |
|
|
|
|
466 / 7739
|
|
13
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|