| Metadata | |
|---|---|
| ID | DOID:0060418 |
| PURL | http://purl.obolibrary.org/obo/DOID_0060418 Copy |
| Name | 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. https://pubmed.ncbi.nlm.nih.gov/22180640/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:726705007 |
| Subsets |
DO_rare_slim |
| Synonyms |
3q13 microdeletion syndrome [EXACT] monosomy 3q13 [EXACT] |
| Parent Relationships |