|
1
|
(HPO:0000568)
|
Microphthalmia |
4/11 [HPO:probinson]
|
|
16116424
|
IBIS
|
183 / 7739
|
|
2
|
(HPO:0001263)
|
Global developmental delay |
|
|
16116424
|
IBIS
|
853 / 7739
|
|
3
|
(HPO:0001511)
|
Intrauterine growth retardation |
3/11 [HPO:probinson]
|
|
16116424
|
IBIS
|
358 / 7739
|
|
4
|
(HPO:0003221)
|
Chromosomal breakage induced by crosslinking agents |
|
|
16116424
|
IBIS
|
8 / 7739
|
|
5
|
(HPO:0005528)
|
Bone marrow hypocellularity |
|
|
16116424
|
IBIS
|
31 / 7739
|
|
6
|
(HPO:0007565)
|
Multiple cafe-au-lait spots |
8/11 [HPO:probinson]
|
|
16116424
|
IBIS
|
11 / 7739
|
|
7
|
(HPO:0008897)
|
Postnatal growth retardation |
|
|
16116424
|
IBIS
|
113 / 7739
|
|
8
|
(HPO:0009778)
|
Short thumb |
3/11 [HPO:probinson]
|
|
16116424
|
IBIS
|
50 / 7739
|
|
9
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|