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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01105 |
Cranio-lenticulo-sutural dysplasia Boyadjiev-Jabs syndrome |
... characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms, and skeletal defects. CLSD is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking. | Congenital malformation | SEC23A [HSA:10484] [KO:K14006] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |