|
1
|
(HPO:0000529)
|
Progressive visual loss |
|
|
18606301
|
IBIS
|
54 / 7739
|
|
2
|
(HPO:0000639)
|
Nystagmus |
|
|
18606301
|
IBIS
|
555 / 7739
|
|
3
|
(HPO:0001263)
|
Global developmental delay |
|
|
18606301
|
IBIS
|
853 / 7739
|
|
4
|
(HPO:0001903)
|
Anemia |
|
|
18606301
|
IBIS
|
289 / 7739
|
|
5
|
(HPO:0004313)
|
Decreased antibody level in blood |
3/4 [HPO:probinson]
|
|
18606301
|
IBIS
|
47 / 7739
|
|
6
|
(HPO:0006532)
|
Recurrent pneumonia |
|
|
18606301
|
IBIS
|
48 / 7739
|
|
7
|
(HPO:0007807)
|
Optic nerve compression |
|
|
18606301
|
IBIS
|
6 / 7739
|
|
8
|
(HPO:0011002)
|
Osteopetrosis |
|
|
18606301
|
IBIS
|
19 / 7739
|
|
9
|
(HPO:0100671)
|
Abnormal trabecular bone morphology |
|
|
18606301
|
IBIS
|
1 / 7739
|
|
10
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|