OBO ID: DOID:0060418
Term Name: chromosome 3q13.31 deletion syndrome Search Ontology:
Synonyms:
  • 3q13 microdeletion syndrome
  • monosomy 3q13
Definition: A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. https://pubmed.ncbi.nlm.nih.gov/22180640/
References:
Ontology: Human Disease   ( DOID:0060418 )
Relationships
is a type of:
OTHER chromosome 3q13.31 deletion syndrome PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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