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Metadata
ID DOID:0060392
PURL http://purl.obolibrary.org/obo/DOID_0060392 Copy
Name chromosome 14q11-q22 deletion syndrome
Definition A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14.
https://pubmed.ncbi.nlm.nih.gov/21744488
Xrefs

MIM:613457

ORDO:261120

Subsets

DO_rare_slim

Synonyms

14q11.2 microdeletion syndrome [EXACT]

Parent Relationships

is_a chromosomal deletion syndrome

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