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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02134 |
Microphthalmia with limb anomalies Anophthalmia-syndactyly syndrome Waardenburg anophthalmia syndrome Ophthalmoacromelic syndrome |
... of fibula, and bowed tibia. In addition, other organs may be affected (long-bone hypoplasia; renal, venous, and vertebral anomalies). It has been shown that mutations in SMOC1 gene cause this disorder. | Congenital malformation | SMOC1 [HSA:64093] [KO:K24354] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |