|
1
|
(HPO:0000029)
|
Testicular atrophy |
|
|
|
|
13 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
rare [HPO:skoehler]
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0001394)
|
Cirrhosis |
|
|
|
|
102 / 7739
|
|
4
|
(HPO:0001510)
|
Growth delay |
|
|
|
|
295 / 7739
|
|
5
|
(HPO:0001873)
|
Thrombocytopenia |
|
|
|
|
224 / 7739
|
|
6
|
(HPO:0001876)
|
Pancytopenia |
|
|
|
|
89 / 7739
|
|
7
|
(HPO:0002164)
|
Nail dysplasia |
|
|
|
|
82 / 7739
|
|
8
|
(HPO:0002514)
|
Cerebral calcification |
rare [HPO:skoehler]
|
|
|
|
89 / 7739
|
|
9
|
(HPO:0005671)
|
Bilateral intracranial calcifications |
|
|
|
|
9 / 7739
|
|
10
|
(HPO:0005849)
|
Diffuse cerebral calcification |
|
|
|
|
9 / 7739
|
|
11
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
|
|
31 / 7739
|
|
12
|
(HPO:0007427)
|
Reticulated skin pigmentation |
|
|
|
|
7 / 7739
|
|
13
|
(HPO:0008404)
|
Nail dystrophy |
|
|
|
|
89 / 7739
|
|
14
|
(HPO:0002745)
|
Oral leukoplakia |
|
|
|
|
17 / 7739
|
|
15
|
(OMIM)
|
Shortened telomeres |
|
|
|
|
9 / 7739
|
|
16
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|