Term Name: Ebstein-Bezieau neurodevelopmental syndrome
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.
Ontology: Human Disease [DOID:0070693]   ( DOID:0070693 )

Relationships
is a type of: autosomal dominant intellectual developmental disorder