|
1
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000579)
|
Nasolacrimal duct obstruction |
|
|
|
|
9 / 7739
|
|
3
|
(HPO:0000653)
|
Sparse eyelashes |
|
|
|
|
58 / 7739
|
|
4
|
(HPO:0000670)
|
Carious teeth |
|
|
|
|
145 / 7739
|
|
5
|
(HPO:0000691)
|
Microdontia |
|
|
|
|
104 / 7739
|
|
6
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|
|
7
|
(HPO:0000953)
|
Hyperpigmentation of the skin |
|
|
|
|
75 / 7739
|
|
8
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
9
|
(HPO:0001395)
|
Hepatic fibrosis |
|
|
|
|
67 / 7739
|
|
10
|
(HPO:0001792)
|
Small nail |
|
|
|
|
55 / 7739
|
|
11
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
12
|
(HPO:0001915)
|
Aplastic anemia |
|
|
|
|
16 / 7739
|
|
13
|
(HPO:0002032)
|
Esophageal atresia |
|
|
|
|
19 / 7739
|
|
14
|
(HPO:0002043)
|
Esophageal stricture |
|
|
|
|
7 / 7739
|
|
15
|
(HPO:0010450)
|
Esophageal stenosis |
|
|
|
|
7 / 7739
|
|
16
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
17
|
(HPO:0002165)
|
Pterygium of nails |
|
|
|
|
2 / 7739
|
|
18
|
(HPO:0002206)
|
Pulmonary fibrosis |
|
|
|
|
51 / 7739
|
|
19
|
(HPO:0002209)
|
Sparse scalp hair |
|
|
|
|
59 / 7739
|
|
20
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
21
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
22
|
(HPO:0009926)
|
Increased lacrimation |
|
|
|
|
8 / 7739
|
|
23
|
(OMIM)
|
Purple tongue discoloration (classic feature) |
|
|
|
|
1 / 7739
|
|
24
|
(HPO:0000164)
|
Abnormality of the teeth |
|
|
|
|
291 / 7739
|
|
25
|
(HPO:0006530)
|
Interstitial pulmonary disease |
|
|
|
|
26 / 7739
|
|
26
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
27
|
(OMIM)
|
Reticular skin pigmentation (classic feature, NOLA3 patient) |
|
|
|
|
1 / 7739
|
|
28
|
(OMIM)
|
Thickening of the skin over the palms and soles (NOLA3 patient) |
|
|
|
|
1 / 7739
|
|
29
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
30
|
(OMIM)
|
Longitudinal ridges |
|
|
|
|
1 / 7739
|
|
31
|
(HPO:0001328)
|
Specific learning disability |
|
|
|
|
114 / 7739
|
|
32
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
33
|
(OMIM)
|
Increased risk of malignancy |
|
|
|
|
3 / 7739
|
|
34
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
35
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
36
|
(HPO:0003812)
|
Phenotypic variability |
|
|
|
|
129 / 7739
|