chromosome 15q13.3 microdeletion syndrome

Term ID

DOID:0060394

Synonyms

• 15q13.3 microdeletion syndrome

Definition

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. https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome

References

• GARD:10296
• ICD10CM:Q93.5
• MESH:C567439
• OMIM:612001
• ORDO:199318

Ontology

Human Disease   ( DOID:0060394 )