※ PTMD 2.0 database Online Browse Options

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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD07555Q5H9F363035
BCORL1
BCL-6 corepressor-like protein 1
Homo sapiens