1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [IBIS]
|
|
27087618
|
IBIS
|
524 / 7739
|
2
|
(HPO:0008209)
|
Premature ovarian failure |
Very frequent [IBIS]
|
|
23541340
|
IBIS
|
28 / 7739
|
3
|
(HPO:0001587)
|
Primary ovarian failure |
Very frequent [IBIS]
|
|
26970254
|
IBIS
|
9 / 7739
|
4
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
25956234
|
IBIS
|
21 / 7739
|
5
|
(HPO:0000252)
|
Microcephaly |
|
|
25956234
|
IBIS
|
832 / 7739
|
6
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
23541340
|
IBIS
|
61 / 7739
|
7
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
23541340
|
IBIS
|
48 / 7739
|
8
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
25956234
|
IBIS
|
1245 / 7739
|
9
|
(HPO:0004322)
|
Short stature |
rare [HPO:skoehler]
|
|
23541340
|
IBIS
|
1232 / 7739
|
10
|
(OMIM)
|
Hearing loss, congenital sensorineural, severe to profound |
|
|
23541340
|
IBIS
|
1 / 7739
|
11
|
(OMIM)
|
Small ovaries |
|
|
23541340
|
IBIS
|
4 / 7739
|
12
|
(HPO:0010464)
|
Streak ovary |
|
|
23541340
|
IBIS
|
8 / 7739
|
13
|
(HPO:0001251)
|
Ataxia |
|
|
23541340
|
IBIS
|
413 / 7739
|
14
|
(OMIM)
|
Increased gonadotropin levels |
|
|
23541340
|
IBIS
|
3 / 7739
|
15
|
(HPO:0012444)
|
Brain atrophy |
|
|
25956234
|
IBIS
|
24 / 7739
|
16
|
(HPO:0002061)
|
Lower limb spasticity |
|
|
25956234
|
IBIS
|
56 / 7739
|
17
|
(HPO:0000869)
|
Secondary amenorrhea |
|
|
27087618
|
IBIS
|
42 / 7739
|
18
|
(HPO:0000133)
|
Gonadal dysgenesis |
|
|
27087618
|
IBIS
|
21 / 7739
|
19
|
(OMIM)
|
Ovarian dysgenesis |
|
|
25956234
|
IBIS
|
7 / 7739
|
20
|
(HPO:0000137)
|
Abnormality of the ovary |
|
|
25956234
|
IBIS
|
41 / 7739
|
21
|
(HPO:0008222)
|
Female infertility |
|
|
25956234
|
IBIS
|
7 / 7739
|
22
|
(MedDRA:10036601)
|
Premature menopause |
|
|
25956234
|
IBIS
|
3 / 7739
|
23
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
25956234
|
IBIS
|
29 / 7739
|
24
|
(HPO:0001249)
|
Intellectual disability |
|
|
25956234
|
IBIS
|
1089 / 7739
|
25
|
(HPO:0001510)
|
Growth delay |
|
|
25956234
|
IBIS
|
295 / 7739
|
26
|
(HPO:0030338)
|
Abnormal circulating gonadotropin level |
|
|
23541340
|
IBIS
|
2 / 7739
|