|
1
|
(HPO:0001513)
|
Obesity |
Very frequent [Orphanet]
|
|
|
|
172 / 7739
|
|
2
|
(HPO:0000486)
|
Strabismus |
Occasional [Orphanet]
|
|
|
|
576 / 7739
|
|
3
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
|
4
|
(HPO:0000405)
|
Conductive hearing impairment |
|
|
|
|
164 / 7739
|
|
5
|
(HPO:0000408)
|
Progressive sensorineural hearing impairment |
|
|
|
|
28 / 7739
|
|
6
|
(HPO:0000529)
|
Progressive visual loss |
|
|
|
|
54 / 7739
|
|
7
|
(HPO:0000662)
|
Nyctalopia |
|
|
|
|
92 / 7739
|
|
8
|
(HPO:0001133)
|
Constriction of peripheral visual field |
|
|
|
|
33 / 7739
|
|
9
|
(HPO:0001139)
|
Choroideremia |
|
|
|
|
7 / 7739
|
|
10
|
(HPO:0001150)
|
Choroidal sclerosis |
|
|
|
|
5 / 7739
|
|
11
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
12
|
(HPO:0001263)
|
Global developmental delay |
|
|
|
|
853 / 7739
|
|
13
|
(OMIM)
|
Deafness, profound |
|
|
|
|
4 / 7739
|
|
14
|
(OMIM)
|
Wide bulbous internal auditory meatus |
|
|
|
|
2 / 7739
|
|
15
|
(OMIM)
|
Deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea |
|
|
|
|
2 / 7739
|
|
16
|
(OMIM)
|
Abnormal communication between the subarachnoid space in the meatus and the perilymph |
|
|
|
|
2 / 7739
|
|
17
|
(OMIM)
|
Stapes fixation |
|
|
|
|
6 / 7739
|
|
18
|
(HPO:0200065)
|
Chorioretinal degeneration |
|
|
|
|
7 / 7739
|
|
19
|
(OMIM)
|
Reduced central vision (occurs last) |
|
|
|
|
2 / 7739
|
|
20
|
(OMIM)
|
Atrophy around the optic disc (in carrier females) |
|
|
|
|
2 / 7739
|
|
21
|
(OMIM)
|
Irregular pigmentation of fundus (in carrier females) |
|
|
|
|
2 / 7739
|
|
22
|
(OMIM)
|
Contiguous gene deletion syndrome |
|
|
|
|
23 / 7739
|
|
23
|
(HPO:0000479)
|
Abnormality of the retina |
Very frequent [Orphanet]
|
|
|
|
74 / 7739
|
|
24
|
(HPO:0000533)
|
Chorioretinal atrophy |
|
|
|
|
24 / 7739
|
|
25
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|
|
26
|
(HPO:0001466)
|
Contiguous gene syndrome |
|
|
|
|
8 / 7739
|