FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 14q11-q22 deletion syndrome ID (Ontology) DOID:0060392 (Human Disease)
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.
Also Known As "14q11.2 microdeletion syndrome"
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 14q11-q22 deletion syndrome
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Is a chromosomal deletion syndrome
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Synonyms
  • "14q11.2 microdeletion syndrome" EXACT
Secondary IDs
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MIM:613457
ORDO:261120