chromosome 1q21.1 deletion syndrome (DOID:0060411)
Alliance: disease page
Synonyms: 1q21.1 microdeletion syndrome; monosomy 1q21.1
Alt IDs: OMIM:612474, ICD10CM:Q93.5, ORDO:250989
Definition: A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.