|
1
|
(HPO:0000407)
|
Sensorineural hearing impairment |
|
|
5513158
|
IBIS
|
524 / 7739
|
|
2
|
(HPO:0008527)
|
Congenital sensorineural hearing impairment |
|
|
5513158
|
IBIS
|
165 / 7739
|
|
3
|
(HPO:0008625)
|
Severe sensorineural hearing impairment |
|
|
5513158
|
IBIS
|
150 / 7739
|
|
4
|
(HPO:0000546)
|
Retinal degeneration |
|
|
5513158
|
IBIS
|
61 / 7739
|
|
5
|
(HPO:0001249)
|
Intellectual disability |
|
|
5513158
|
IBIS
|
1089 / 7739
|
|
6
|
(HPO:0001250)
|
Seizures |
|
|
5513158
|
IBIS
|
1245 / 7739
|
|
7
|
(HPO:0001508)
|
Failure to thrive |
|
|
5513158
|
IBIS
|
454 / 7739
|
|
8
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
5513158
|
IBIS
|
328 / 7739
|
|
9
|
(OMIM)
|
Elevated blood leucine, isoleucine, and proline |
|
|
5513158
|
IBIS
|
1 / 7739
|
|
10
|
(OMIM)
|
Normal blood valine |
|
|
5513158
|
IBIS
|
1 / 7739
|
|
11
|
(OMIM)
|
Decreased leucine and isoleucine aminotransferase |
|
|
5513158
|
IBIS
|
1 / 7739
|
|
12
|
(OMIM)
|
Normal valine aminotransferase |
|
|
5513158
|
IBIS
|
1 / 7739
|