|
1
|
(HPO:0000028)
|
Cryptorchidism |
|
|
|
|
347 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000365)
|
Hearing impairment |
|
|
|
|
539 / 7739
|
|
4
|
(HPO:0000488)
|
Retinopathy |
|
|
|
|
75 / 7739
|
|
5
|
(HPO:0000750)
|
Delayed speech and language development |
|
|
|
|
197 / 7739
|
|
6
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0000958)
|
Dry skin |
|
|
|
|
152 / 7739
|
|
8
|
(HPO:0001251)
|
Ataxia |
|
|
|
|
413 / 7739
|
|
9
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
10
|
(HPO:0001511)
|
Intrauterine growth retardation |
|
|
|
|
358 / 7739
|
|
11
|
(HPO:0001596)
|
Alopecia |
|
|
|
|
162 / 7739
|
|
12
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
13
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
15
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
16
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
17
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 7739
|
|
18
|
(HPO:0002514)
|
Cerebral calcification |
|
|
|
|
89 / 7739
|
|
19
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
20
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
21
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0007427)
|
Reticulated skin pigmentation |
|
|
|
|
7 / 7739
|
|
23
|
(HPO:0009926)
|
Increased lacrimation |
|
|
|
|
8 / 7739
|
|
24
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
25
|
(OMIM)
|
Blockage of the lacrimal ducts |
|
|
|
|
1 / 7739
|
|
26
|
(MedDRA:10044044)
|
Tooth loss |
|
|
|
|
6 / 7739
|
|
27
|
(HPO:0002093)
|
Respiratory insufficiency |
|
|
|
|
410 / 7739
|
|
28
|
(OMIM)
|
Avascular necrosis of the hip (2 patients) |
|
|
|
|
2 / 7739
|
|
29
|
(OMIM)
|
Short, fine hair |
|
|
|
|
1 / 7739
|
|
30
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
31
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
32
|
(OMIM)
|
Increased fetal hemoglobin |
|
|
|
|
5 / 7739
|
|
33
|
(OMIM)
|
Increased risk of malignancy |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
35
|
(OMIM)
|
Decreased telomerase activity |
|
|
|
|
2 / 7739
|
|
36
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|