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Metadata
ID	DOID:0060418
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	MESH:C536808 OMIM:615433 ORDO:1621 SNOMEDCT_US_2023_03_01:726705007 UMLS_CUI:C2931338
Subsets	DO_rare_slim
Synonyms	3q13 microdeletion syndrome [EXACT] monosomy 3q13 [EXACT]
Parent Relationships	is_a chromosomal deletion syndrome