|
1
|
(HPO:0000252)
|
Microcephaly |
Occasional [Orphanet]
|
|
|
|
832 / 7739
|
|
2
|
(HPO:0000365)
|
Hearing impairment |
Occasional [Orphanet]
|
|
|
|
539 / 7739
|
|
3
|
(HPO:0000786)
|
Primary amenorrhea |
Very frequent [Orphanet]
|
|
|
|
61 / 7739
|
|
4
|
(HPO:0000869)
|
Secondary amenorrhea |
Occasional [Orphanet]
|
|
|
|
42 / 7739
|
|
5
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
Occasional [Orphanet]
|
|
|
|
328 / 7739
|
|
6
|
(HPO:0002206)
|
Pulmonary fibrosis |
Occasional [Orphanet]
|
|
|
|
51 / 7739
|
|
7
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
8
|
(HPO:0004322)
|
Short stature |
Occasional [Orphanet]
|
|
|
|
1232 / 7739
|
|
9
|
(HPO:0004349)
|
Reduced bone mineral density |
Frequent [Orphanet]
|
|
|
|
165 / 7739
|
|
10
|
(HPO:0000789)
|
Infertility |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
11
|
(HPO:0011302)
|
Long palm |
Occasional [Orphanet]
|
|
|
|
70 / 7739
|
|
12
|
(HPO:0000137)
|
Abnormality of the ovary |
Very frequent [Orphanet]
|
|
|
|
41 / 7739
|
|
13
|
(HPO:0008373)
|
Puberty and gonadal disorders |
Very frequent [Orphanet]
|
|
|
|
156 / 7739
|
|
14
|
(HPO:0000133)
|
Gonadal dysgenesis |
|
|
|
|
21 / 7739
|
|
15
|
(HPO:0000837)
|
Increased circulating gonadotropin level |
|
|
|
|
12 / 7739
|
|
16
|
(HPO:0000939)
|
Osteoporosis |
|
|
|
|
129 / 7739
|