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. [ url:https://www.omim.org/entry/613406 http://purl.obolibrary.org/obo/ECO_0007636 ]
Synonyms: 15q24 microdeletion syndrome
Term information
- ICD10CM:Q93.5
- ORDO:94065
- MESH:C579849
- OMIM:613406
- GARD:12219
DO_rare_slim