Ebstein-Bezieau neurodevelopmental syndrome

Term ID

DOID:0070693

Synonyms

Definition

A autosomal dominant intellectual developmental disorder characterized by neurodevelopmental delay, intellectual disability, and varying congenital malformations, most commonly skeletal and cardiac, that has_material_basis_in heterozygous mutation in the PSMC3 gene on chromosome 11p13. https://pmc.ncbi.nlm.nih.gov/articles/PMC10506367/

References

• MIM:621539

Ontology

Human Disease   ( DOID:0070693 )