1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
524 / 7739
|
2
|
(OMIM)
|
Ovarian dysgenesis |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
7 / 7739
|
3
|
(HPO:0008209)
|
Premature ovarian failure |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
28 / 7739
|
4
|
(HPO:0000133)
|
Gonadal dysgenesis |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
21 / 7739
|
5
|
(HPO:0008222)
|
Female infertility |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
7 / 7739
|
6
|
(HPO:0003251)
|
Male infertility |
Very frequent [IBIS]
|
|
25956234
|
IBIS
|
14 / 7739
|
7
|
(HPO:0001587)
|
Primary ovarian failure |
Very frequent [IBIS]
|
|
26970254
|
IBIS
|
9 / 7739
|
8
|
(HPO:0001252)
|
Muscular hypotonia |
Very frequent [IBIS]
|
|
20673864
|
IBIS
|
990 / 7739
|
9
|
(HPO:0001250)
|
Seizures |
Very frequent [IBIS]
|
|
20673864
|
IBIS
|
1245 / 7739
|
10
|
(HPO:0001251)
|
Ataxia |
|
|
25956234
|
IBIS
|
413 / 7739
|
11
|
(OMIM)
|
Decreased or absent D-bifunctional protein activity and protein |
|
|
25956234
|
IBIS
|
2 / 7739
|
12
|
(HPO:0009830)
|
Peripheral neuropathy |
|
|
25956234
|
IBIS
|
206 / 7739
|
13
|
(OMIM)
|
Dysmorphic features |
|
|
20673864
|
IBIS
|
6 / 7739
|
14
|
(HPO:0000505)
|
Visual impairment |
|
|
20673864
|
IBIS
|
297 / 7739
|
15
|
(HPO:0001263)
|
Global developmental delay |
|
|
20673864
|
IBIS
|
853 / 7739
|
16
|
(HPO:0008167)
|
Very long chain fatty acid accumulation |
|
|
20673864
|
IBIS
|
5 / 7739
|
17
|
(OMIM)
|
Peripheral polyneuropathy |
|
|
20673864
|
IBIS
|
2 / 7739
|
18
|
(HPO:0001272)
|
Cerebellar atrophy |
|
|
20673864
|
IBIS
|
197 / 7739
|
19
|
(HPO:0001271)
|
Polyneuropathy |
|
|
20673864
|
IBIS
|
56 / 7739
|
20
|
(HPO:0000815)
|
Hypergonadotropic hypogonadism |
|
|
26970254
|
IBIS
|
48 / 7739
|
21
|
(HPO:0000013)
|
Hypoplasia of the uterus |
|
|
20673864
|
IBIS
|
21 / 7739
|
22
|
(HPO:0008724)
|
Hypoplasia of the ovary |
|
|
26970254
|
IBIS
|
6 / 7739
|
23
|
(HPO:0001249)
|
Intellectual disability |
|
|
20673864
|
IBIS
|
1089 / 7739
|