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Metadata
ID DOID:0060411
Name chromosome 1q21.1 deletion syndrome
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.
https://ghr.nlm.nih.gov/condition/1q211-microdeletion
Xrefs

GARD:10813

ICD10CM:Q93.5

OMIM:612474

ORDO:250989

Subsets

DO_rare_slim

Synonyms

1q21.1 microdeletion syndrome [EXACT]

monosomy 1q21.1 [RELATED]

Parent Relationships

is_a chromosomal deletion syndrome

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