|
1
|
(HPO:0000164)
|
Abnormality of the teeth |
rare [HPO:skoehler]
|
|
|
|
291 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
rare [HPO:skoehler]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000938)
|
Osteopenia |
rare [HPO:skoehler]
|
|
|
|
138 / 7739
|
|
4
|
(HPO:0000939)
|
Osteoporosis |
rare [HPO:skoehler]
|
|
|
|
129 / 7739
|
|
5
|
(OMIM)
|
Hyposmia/anosmia |
|
|
|
|
7 / 7739
|
|
6
|
(OMIM)
|
Absent or delayed puberty |
|
|
|
|
11 / 7739
|
|
7
|
(HPO:0002659)
|
Increased susceptibility to fractures |
|
|
|
|
110 / 7739
|
|
8
|
(MedDRA:10017322)
|
Fractures |
|
|
|
|
18 / 7739
|
|
9
|
(MedDRA:10017076)
|
Fracture |
|
|
|
|
18 / 7739
|
|
10
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
11
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
12
|
(HPO:0000458)
|
Anosmia |
rare [HPO:skoehler]
|
|
|
|
49 / 7739
|