|
1
|
(HPO:0000510)
|
Rod-cone dystrophy |
Very frequent [Orphanet]
|
|
|
|
266 / 7739
|
|
2
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
3
|
(HPO:0000252)
|
Microcephaly |
|
|
|
|
832 / 7739
|
|
4
|
(HPO:0000505)
|
Visual impairment |
|
|
|
|
297 / 7739
|
|
5
|
(HPO:0000662)
|
Nyctalopia |
rare [HPO]
|
|
|
|
92 / 7739
|
|
6
|
(HPO:0004322)
|
Short stature |
|
|
|
|
1232 / 7739
|
|
7
|
(OMIM)
|
Retinitis pigmentosa, severe, early-onset |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Decreased visual acuity, in some female carriers |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Night blindness, in some female carriers |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Mental retardation, mild to moderate |
|
|
|
|
33 / 7739
|
|
11
|
(OMIM)
|
Normal intelligence in carrier females |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0012758)
|
Neurodevelopmental delay |
Very frequent [Orphanet]
|
|
|
|
949 / 7739
|
|
13
|
(HPO:0001419)
|
X-linked recessive inheritance |
|
|
|
|
189 / 7739
|