Shukla-Vernon Syndrome
Disease ID: disease_node_20236
Connections displayed (default: 10).
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| Dbxref | MIM:301029 |
|---|---|
| Subclassof | DOID_0080012, DOID_225 |
| Data Source | DOID |
| Synonyms | SHUVER |
| Doid Label | Shukla-Vernon syndrome |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20236 |
| Doid Id | DOID_0111841 |
| Label | Shukla-Vernon Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)