FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chromosome 15q13.3 microdeletion syndrome ID (Ontology) DOID:0060394 (Human Disease)
Definition A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15.
Also Known As "15q13.3 microdeletion syndrome"
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Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
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 Alleles Genes
 chromosome 15q13.3 microdeletion syndrome       1      1
 model of | chromosome 15q13.3 microdeletion syndrome       1       --
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  chromosomal disease
   |__chromosomal deletion syndrome
       |__chromosome 15q13.3 microdeletion syndrome  2 rec.
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Is a chromosomal deletion syndrome
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Synonyms
  • "15q13.3 microdeletion syndrome" EXACT
Secondary IDs
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GARD:10296
ICD10CM:Q93.5
MESH:C567439
MIM:612001
ORDO:199318