chromosome 3q13.31 deletion syndrome

Term ID

DOID:0060418

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

• MESH:C536808
• OMIM:615433
• ORDO:1621
• SNOMEDCT_US_2023_03_01:726705007
• UMLS_CUI:C2931338

Ontology

Human Disease   ( DOID:0060418 )