|
1
|
(HPO:0000518)
|
Cataract |
|
|
|
|
454 / 7739
|
|
2
|
(HPO:0001433)
|
Hepatosplenomegaly |
|
|
|
|
78 / 7739
|
|
3
|
(HPO:0001903)
|
Anemia |
|
|
|
|
289 / 7739
|
|
4
|
(HPO:0001939)
|
Abnormality of metabolism/homeostasis |
|
|
|
|
328 / 7739
|
|
5
|
(HPO:0002983)
|
Micromelia |
|
|
|
|
130 / 7739
|
|
6
|
(OMIM)
|
Thanatophoric dysplasia |
|
|
|
|
1 / 7739
|
|
7
|
(OMIM)
|
Hypoplasia of iliac, pubic, and ischial bones |
|
|
|
|
1 / 7739
|
|
8
|
(OMIM)
|
Curved femora |
|
|
|
|
1 / 7739
|
|
9
|
(OMIM)
|
Curved humeri |
|
|
|
|
1 / 7739
|
|
10
|
(OMIM)
|
Growth plate generally disrupted with inadequate columns and fibrous bands |
|
|
|
|
1 / 7739
|
|
11
|
(HPO:0000007)
|
Autosomal recessive inheritance |
|
|
|
|
2538 / 7739
|
|
12
|
(HPO:0003811)
|
Neonatal death |
|
|
|
|
44 / 7739
|