chromosome 15q24 deletion syndrome

Term ID

DOID:0060395

Synonyms

• 15q24 microdeletion syndrome

Definition

A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. https://www.omim.org/entry/613406

References

• GARD:12219
• ICD10CM:Q93.5
• MESH:C579849
• ORDO:94065
• SNOMEDCT_US_2026_03_01:699308002
• UMLS_CUI:C3697269

Ontology

Human Disease   ( DOID:0060395 )