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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H02156 |
Lamb-Shaffer syndrome 12p12.1 microdeletion syndrome |
... disability, speech delay, and mild characteristic facial appearance. It is caused by haploinsufficiency of SOX5 at 12p12.1. SOX5 encodes a transcription factor involved in the regulation of chondrogenesis and ... | Chromosomal abnormality | SOX5 [HSA:6660] [KO:K09269] |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |