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Metadata
ID	DOID:0070693
PURL	http://purl.obolibrary.org/obo/DOID_0070693 Copy Copied!
Name	Ebstein-Bezieau neurodevelopmental syndrome
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/
Xrefs	MIM:621539
SKOS	exactMatch MIM:621539
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant intellectual developmental disorder
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance