|
1
|
(HPO:0000107)
|
Renal cyst |
|
|
|
|
126 / 7739
|
|
2
|
(HPO:0002749)
|
Osteomalacia |
|
|
|
|
24 / 7739
|
|
3
|
(HPO:0003198)
|
Myopathy |
|
|
|
|
151 / 7739
|
|
4
|
(HPO:0003236)
|
Elevated serum creatine phosphokinase |
|
|
|
|
214 / 7739
|
|
5
|
(HPO:0003701)
|
Proximal muscle weakness |
|
|
|
|
105 / 7739
|
|
6
|
(HPO:0006557)
|
Polycystic liver disease |
|
|
|
|
5 / 7739
|
|
7
|
(HPO:0011001)
|
Increased bone mineral density |
|
|
|
|
78 / 7739
|
|
8
|
(OMIM)
|
Unique coarsening and spongelike appearance of trabecular bone of axial skeleton |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Normal skull and appendicular skeleton |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal blood calcium, inorganic phosphate and alkaline phosphatase |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Osteomalacia on bone biopsy |
|
|
|
|
1 / 7739
|
|
12
|
(OMIM)
|
Myopathic changes on muscle biopsy |
|
|
|
|
1 / 7739
|
|
13
|
(OMIM)
|
Vague chronic axial skeletal pain |
|
|
|
|
1 / 7739
|
|
14
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|