| Term Name: | chromosome 3q13.31 deletion syndrome |
|---|---|
| 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. |
| Ontology: | Human Disease [DOID:0060418] ( DOID:0060418 ) |