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Human Disease
chromosome 15q13.3 microdeletion syndrome
- Term ID
- DOID:0060394
- Synonyms
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- 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
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- GARD:10296
- ICD10CM:Q93.5
- MESH:C567439
- MIM:612001
- ORDO:199318
- Ontology
- Human Disease ( DOID:0060394 )
- is a type of
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