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Browse result for Shukla-Vernon syndrome
※ introduction A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1.
Reference
DiseaseOntology: Shukla-Vernon syndrome
Reference
DiseaseOntology: Shukla-Vernon syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD07555 | Q5H9F3 | 63035 | BCORL1 | BCL-6 corepressor-like protein 1 | Homo sapiens |
