|
1
|
(HPO:0000083)
|
Renal insufficiency |
|
|
|
|
232 / 7739
|
|
2
|
(HPO:0000924)
|
Abnormality of the skeletal system |
|
|
|
|
114 / 7739
|
|
3
|
(HPO:0001085)
|
Papilledema |
|
|
|
|
31 / 7739
|
|
4
|
(HPO:0001392)
|
Abnormality of the liver |
|
|
|
|
28 / 7739
|
|
5
|
(HPO:0001541)
|
Ascites |
|
|
|
|
94 / 7739
|
|
6
|
(HPO:0002018)
|
Nausea |
|
|
|
|
44 / 7739
|
|
7
|
(HPO:0002516)
|
Increased intracranial pressure |
|
|
|
|
47 / 7739
|
|
8
|
(HPO:0003072)
|
Hypercalcemia |
|
|
|
|
36 / 7739
|
|
9
|
(HPO:0003256)
|
Abnormality of the coagulation cascade |
|
|
|
|
19 / 7739
|
|
10
|
(HPO:0007418)
|
Alopecia totalis |
|
|
|
|
6 / 7739
|
|
11
|
(OMIM)
|
Periosteal new bone formation |
|
|
|
|
2 / 7739
|
|
12
|
(OMIM)
|
Erythematous, exfoliative rash |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Splayed cranial sutures |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|