|
1
|
(HPO:0000133)
|
Gonadal dysgenesis |
Very frequent [IBIS]
|
|
25355836
|
IBIS
|
21 / 7739
|
|
2
|
(HPO:0001251)
|
Ataxia |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
413 / 7739
|
|
3
|
(HPO:0001265)
|
Hyporeflexia |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
208 / 7739
|
|
4
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
524 / 7739
|
|
5
|
(HPO:0008209)
|
Premature ovarian failure |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
28 / 7739
|
|
6
|
(OMIM)
|
Ovarian dysgenesis |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
7 / 7739
|
|
7
|
(HPO:0001587)
|
Primary ovarian failure |
Very frequent [IBIS]
|
|
26970254
|
IBIS
|
9 / 7739
|
|
8
|
(HPO:0003198)
|
Myopathy |
Occasional [IBIS]
|
|
25355836
|
IBIS
|
151 / 7739
|
|
9
|
(HPO:0000218)
|
High palate |
rare [HPO:skoehler]
|
|
25355836
|
IBIS
|
356 / 7739
|
|
10
|
(HPO:0000602)
|
Ophthalmoplegia |
|
|
25355836
|
IBIS
|
56 / 7739
|
|
11
|
(HPO:0000639)
|
Nystagmus |
|
|
26970254
|
IBIS
|
555 / 7739
|
|
12
|
(HPO:0000786)
|
Primary amenorrhea |
|
|
25355836
|
IBIS
|
61 / 7739
|
|
13
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
25355836
|
IBIS
|
48 / 7739
|
|
14
|
(HPO:0001250)
|
Seizures |
rare [HPO:skoehler]
|
|
25355836
|
IBIS
|
1245 / 7739
|
|
15
|
(HPO:0001761)
|
Pes cavus |
rare [HPO:skoehler]
|
|
25355836
|
IBIS
|
225 / 7739
|
|
16
|
(HPO:0002151)
|
Increased serum lactate |
|
|
25355836
|
IBIS
|
92 / 7739
|
|
17
|
(HPO:0002403)
|
Positive Romberg sign |
|
|
25355836
|
IBIS
|
11 / 7739
|
|
18
|
(HPO:0003390)
|
Sensory axonal neuropathy |
|
|
25355836
|
IBIS
|
26 / 7739
|
|
19
|
(HPO:0003542)
|
Increased serum pyruvate |
|
|
25355836
|
IBIS
|
18 / 7739
|
|
20
|
(HPO:0003477)
|
Peripheral axonal neuropathy |
|
|
25956234
|
IBIS
|
62 / 7739
|
|
21
|
(HPO:0002073)
|
Progressive cerebellar ataxia |
|
|
25956234
|
IBIS
|
27 / 7739
|
|
22
|
(HPO:0000496)
|
Abnormality of eye movement |
|
|
25956234
|
IBIS
|
79 / 7739
|
|
23
|
(HPO:0001730)
|
Progressive hearing impairment |
|
|
25956234
|
IBIS
|
29 / 7739
|
|
24
|
(HPO:0008187)
|
Absence of secondary sex characteristics |
|
|
25355836
|
IBIS
|
5 / 7739
|
|
25
|
(HPO:0010464)
|
Streak ovary |
|
|
25355836
|
IBIS
|
8 / 7739
|
|
26
|
(HPO:0002069)
|
Generalized tonic-clonic seizures |
|
|
25355836
|
IBIS
|
96 / 7739
|
|
27
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
25355836
|
IBIS
|
206 / 7739
|
|
28
|
(HPO:0000544)
|
External ophthalmoplegia |
|
|
25355836
|
IBIS
|
40 / 7739
|
|
29
|
(HPO:0000640)
|
Gaze-evoked nystagmus |
|
|
25355836
|
IBIS
|
27 / 7739
|
|
30
|
(HPO:0008619)
|
Bilateral sensorineural hearing impairment |
|
|
25355836
|
IBIS
|
23 / 7739
|
|
31
|
(HPO:0100022)
|
Abnormality of movement |
|
|
25355836
|
IBIS
|
129 / 7739
|
|
32
|
(HPO:0002066)
|
Gait ataxia |
|
|
25355836
|
IBIS
|
327 / 7739
|
|
33
|
(HPO:0003474)
|
Sensory impairment |
|
|
25355836
|
IBIS
|
54 / 7739
|
|
34
|
(HPO:0008180)
|
Mildly elevated creatine phosphokinase |
|
|
25355836
|
IBIS
|
28 / 7739
|
|
35
|
(HPO:0011969)
|
Elevated luteinizing hormone |
|
|
25355836
|
IBIS
|
6 / 7739
|
|
36
|
(HPO:0008232)
|
Elevated follicle stimulating hormone |
|
|
25355836
|
IBIS
|
8 / 7739
|
|
37
|
(HPO:0010544)
|
Vertical nystagmus |
|
|
25355836
|
IBIS
|
5 / 7739
|
|
38
|
(HPO:0000666)
|
Horizontal nystagmus |
|
|
25355836
|
IBIS
|
32 / 7739
|
|
39
|
(HPO:0003693)
|
Distal amyotrophy |
|
|
25355836
|
IBIS
|
118 / 7739
|
|
40
|
(HPO:0003554)
|
Type 2 muscle fiber atrophy |
|
|
25355836
|
IBIS
|
14 / 7739
|