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DO Term : chromosome 14q11-q22 deletion syndrome [DOID:0060392] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 14q11.2 microdeletion syndrome,
  • OMIM:613457,
  • ORDO:261120,
  • 613457
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Disease

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