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chromosome 15q13.3 microdeletion syndrome

Disease Summary
Associated Targets (6)
Tbio

4

Tchem

1

Tdark

1


GARD Rare
Mondo Description 15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.
Disease Ontology Description A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
Mondo Term and Equivalent IDs
MONDO:0012774:  chromosome 15q13.3 microdeletion syndrome
GARD:0010296: 
MESH:C567439: 
Orphanet:199318: 
SCTID:699254009: