|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
3
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
4
|
(HPO:0000972)
|
Palmoplantar hyperkeratosis |
|
|
|
|
41 / 7739
|
|
5
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
6
|
(HPO:0001321)
|
Cerebellar hypoplasia |
|
|
|
|
114 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
|
|
454 / 7739
|
|
8
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
9
|
(HPO:0001644)
|
Dilated cardiomyopathy |
|
|
|
|
141 / 7739
|
|
10
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
11
|
(HPO:0001882)
|
Leukopenia |
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0002028)
|
Chronic diarrhea |
|
|
|
|
51 / 7739
|
|
14
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
15
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
|
17
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
18
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0002216)
|
Premature graying of hair |
|
|
|
|
43 / 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:0010885)
|
Aseptic necrosis |
|
|
|
|
24 / 7739
|
|
24
|
(HPO:0012227)
|
Urethral stricture |
|
|
|
|
5 / 7739
|
|
25
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
26
|
(OMIM)
|
Bluish discoloration of the tongue (seen in recessive form) |
|
|
|
|
1 / 7739
|
|
27
|
(MedDRA:10044044)
|
Tooth loss |
|
|
|
|
6 / 7739
|
|
28
|
(OMIM)
|
Cardiac fibrosis |
|
|
|
|
1 / 7739
|
|
29
|
(OMIM)
|
Liver fibrosis |
|
|
|
|
3 / 7739
|
|
30
|
(HPO:0002014)
|
Diarrhea |
|
|
|
|
225 / 7739
|
|
31
|
(OMIM)
|
Avascular necrosis of the hip (2 patients) |
|
|
|
|
2 / 7739
|
|
32
|
(OMIM)
|
Reticulated pigmentation (seen in recessive form) |
|
|
|
|
1 / 7739
|
|
33
|
(OMIM)
|
Hyperkeratosis of the palms (seen in recessive form) |
|
|
|
|
1 / 7739
|
|
34
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
35
|
(OMIM)
|
Gray forelock |
|
|
|
|
1 / 7739
|
|
36
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
37
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
38
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
39
|
(OMIM)
|
Decreased telomerase activity |
|
|
|
|
2 / 7739
|
|
40
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
41
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
42
|
(HPO:0003743)
|
Genetic anticipation |
|
|
|
|
9 / 7739
|
|
43
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|