Term Name: | chromosome 3q13.31 deletion syndrome |
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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 ) |