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chromosome 15q11.2 deletion syndrome
Summary
- Synonym
-
- 15q11.2 microdeletion syndrome
- Definition
- A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
- Super Class
- autosomal dominant disease chromosomal deletion syndrome
External Links
- Disease Ontology
- DOID:0060393
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- WikiPathways (from TogoID)
Related Genes
