|
1
|
(HPO:0000135)
|
Hypogonadism |
|
|
|
|
89 / 7739
|
|
2
|
(HPO:0000548)
|
Cone/cone-rod dystrophy |
|
|
|
|
47 / 7739
|
|
3
|
(HPO:0000598)
|
Abnormality of the ear |
|
|
|
|
98 / 7739
|
|
4
|
(HPO:0001249)
|
Intellectual disability |
|
|
|
|
1089 / 7739
|
|
5
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
6
|
(OMIM)
|
Cone-rod dystrophy by electrophysiology |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Deletion of 18q21.1-qter |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Central postsynaptic hearing impairment |
|
|
|
|
1 / 7739
|
|
9
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
10
|
(HPO:0003621)
|
Juvenile onset |
|
|
|
|
105 / 7739
|
|
11
|
(HPO:0011463)
|
Childhood onset |
|
|
|
|
65 / 7739
|