|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
|
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
|
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
|
|
150 / 7739
|
|
4
|
(HPO:0001000)
|
Abnormality of skin pigmentation |
|
|
|
|
105 / 7739
|
|
5
|
(HPO:0003241)
|
External genital hypoplasia |
|
|
|
|
25 / 7739
|
|
6
|
(HPO:0008035)
|
Retinitis pigmentosa inversa |
|
|
|
|
3 / 7739
|
|
7
|
(HPO:0000510)
|
Rod-cone dystrophy |
|
|
|
|
266 / 7739
|
|
8
|
(OMIM)
|
Predominant pigmentation around the disc and macula |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
No night blindness |
|
|
|
|
2 / 7739
|
|
10
|
(OMIM)
|
Early central vision loss |
|
|
|
|
1 / 7739
|
|
11
|
(OMIM)
|
Dim illumination preference |
|
|
|
|
1 / 7739
|
|
12
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|