1
|
(HPO:0001347)
|
Hyperreflexia |
Frequent [Orphanet]
|
|
|
|
363 / 7739
|
2
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
3
|
(HPO:0011869)
|
Abnormal platelet function |
Occasional [Orphanet]
|
|
|
|
12 / 7739
|
4
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
5
|
(HPO:0002205)
|
Recurrent respiratory infections |
Frequent [Orphanet]
|
|
|
|
254 / 7739
|
6
|
(HPO:0001874)
|
Abnormality of neutrophils |
Frequent [Orphanet]
|
|
|
|
47 / 7739
|
7
|
(HPO:0001903)
|
Anemia |
Frequent [Orphanet]
|
|
|
|
289 / 7739
|
8
|
(HPO:0002488)
|
Acute leukemia |
Frequent [Orphanet]
|
|
|
|
29 / 7739
|
9
|
(HPO:0001288)
|
Gait disturbance |
Very frequent [Orphanet]
|
|
|
|
318 / 7739
|
10
|
(HPO:0001744)
|
Splenomegaly |
Frequent [Orphanet]
|
|
|
|
337 / 7739
|
11
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
12
|
(HPO:0002066)
|
Gait ataxia |
Very frequent [Orphanet]
|
|
|
|
327 / 7739
|
13
|
(HPO:0004311)
|
Abnormality of macrophages |
Frequent [Orphanet]
|
|
|
|
7 / 7739
|
14
|
(HPO:0000639)
|
Nystagmus |
Frequent [Orphanet]
|
|
|
|
555 / 7739
|
15
|
(HPO:0000762)
|
Decreased nerve conduction velocity |
|
|
|
|
36 / 7739
|
16
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
|
|
197 / 7739
|
17
|
(HPO:0001310)
|
Dysmetria |
|
|
|
|
76 / 7739
|
18
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
19
|
(HPO:0001908)
|
Hypoplastic anemia |
|
|
|
|
2 / 7739
|
20
|
(HPO:0002166)
|
Impaired vibration sensation in the lower limbs |
|
|
|
|
26 / 7739
|
21
|
(HPO:0002167)
|
Neurological speech impairment |
Frequent [Orphanet]
|
|
|
|
308 / 7739
|
22
|
(HPO:0002317)
|
Unsteady gait |
|
|
|
|
45 / 7739
|
23
|
(HPO:0004820)
|
Acute myelomonocytic leukemia |
|
|
|
|
2 / 7739
|
24
|
(HPO:0006801)
|
Hyperactive deep tendon reflexes |
|
|
|
|
21 / 7739
|
25
|
(OMIM)
|
Cerebellar atrophy on CT scan |
|
|
|
|
1 / 7739
|
26
|
(OMIM)
|
Bilateral Babinski reflexes |
|
|
|
|
1 / 7739
|
27
|
(OMIM)
|
Monosomy 7 mosaicism |
|
|
|
|
1 / 7739
|
28
|
(OMIM)
|
Decreased bone marrow mitotic activity |
|
|
|
|
1 / 7739
|
29
|
(HPO:0010701)
|
Abnormal immunoglobulin level |
Occasional [Orphanet]
|
|
|
|
49 / 7739
|
30
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|