Version: 8.0.0
Date: Tue Jan 28 2025
chromosome 3q13.31 deletion syndrome
DOID:0060418
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

chromosome 3q13.31 deletion syndrome

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.
Synonyms
  • 3q13 microdeletion syndrome
  • monosomy 3q13
Cross References
Parent Terms
Child Terms
None
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