|
1
|
(HPO:0002334)
|
Abnormality of the cerebellar vermis |
Very frequent [Orphanet]
|
|
|
|
137 / 7739
|
|
2
|
(HPO:0011875)
|
Abnormal platelet morphology |
Very frequent [Orphanet]
|
|
|
|
8 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
Very frequent [Orphanet]
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0001874)
|
Abnormality of neutrophils |
Very frequent [Orphanet]
|
|
|
|
47 / 7739
|
|
5
|
(HPO:0001903)
|
Anemia |
Very frequent [Orphanet]
|
|
|
|
289 / 7739
|
|
6
|
(HPO:0000541)
|
Retinal detachment |
Very frequent [Orphanet]
|
|
|
|
87 / 7739
|
|
7
|
(HPO:0001511)
|
Intrauterine growth retardation |
Very frequent [Orphanet]
|
|
|
|
358 / 7739
|
|
8
|
(HPO:0002213)
|
Fine hair |
Very frequent [Orphanet]
|
|
|
|
77 / 7739
|
|
9
|
(HPO:0001006)
|
Hypotrichosis |
Very frequent [Orphanet]
|
|
|
|
219 / 7739
|
|
10
|
(HPO:0001622)
|
Premature birth |
Very frequent [Orphanet]
|
|
|
|
100 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
Very frequent [Orphanet]
|
|
|
|
224 / 7739
|
|
12
|
(HPO:0001597)
|
Abnormality of the nail |
Very frequent [Orphanet]
|
|
|
|
115 / 7739
|
|
13
|
(HPO:0000163)
|
Abnormality of the oral cavity |
Very frequent [Orphanet]
|
|
|
|
37 / 7739
|
|
14
|
(HPO:0000485)
|
Megalocornea |
|
|
|
|
26 / 7739
|
|
15
|
(HPO:0000555)
|
Leukocoria |
|
|
|
|
5 / 7739
|
|
16
|
(HPO:0000639)
|
Nystagmus |
|
|
|
|
555 / 7739
|
|
17
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
18
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
19
|
(HPO:0001276)
|
Hypertonia |
|
|
|
|
317 / 7739
|
|
20
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
21
|
(HPO:0001803)
|
Nail pits |
|
|
|
|
17 / 7739
|
|
22
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
23
|
(HPO:0001933)
|
Subcutaneous hemorrhage |
Very frequent [Orphanet]
|
|
|
|
50 / 7739
|
|
24
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
25
|
(HPO:0002344)
|
Progressive neurologic deterioration |
|
|
|
|
27 / 7739
|
|
26
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
27
|
(HPO:0005671)
|
Bilateral intracranial calcifications |
|
|
|
|
9 / 7739
|
|
28
|
(HPO:0005849)
|
Diffuse cerebral calcification |
|
|
|
|
9 / 7739
|
|
29
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
30
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
31
|
(HPO:0007617)
|
Fine, reticulate skin pigmentation |
|
|
|
|
1 / 7739
|
|
32
|
(HPO:0007898)
|
Exudative retinopathy |
|
|
|
|
3 / 7739
|
|
33
|
(HPO:0008046)
|
Abnormality of the retinal vasculature |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
34
|
(HPO:0008070)
|
Sparse hair |
|
|
|
|
94 / 7739
|
|
35
|
(HPO:0008402)
|
Ridged fingernail |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
37
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
38
|
(OMIM)
|
Bilateral subretinal masses |
|
|
|
|
1 / 7739
|
|
39
|
(HPO:0003220)
|
Abnormality of chromosome stability |
|
|
|
|
98 / 7739
|
|
40
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
41
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
42
|
(HPO:0003745)
|
Sporadic |
|
|
|
|
131 / 7739
|