disease arises from structure disease arises from alteration in structure 3q13.31 (Human) syndrome caused by partial chromosomal deletion chromosome 3q13.31 deletion syndrome https://github.com/monarch-initiative/mondo/issues/3664 https://www.malacards.org/card/chromosome_3q1331_deletion_syndrome GARD:0016573 MEDGEN:815820 Del(3)(q13) 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicantic folds, anti-mongloid slanted eyes, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. MESH:C536808 3q13 microdeletion syndrome MONDO:0014185 SCTID:726705007 monosomy 3q13 chromosome 3q13.31 deletion syndrome OMIM:615433 DOID:0060418 UMLS:C3809490 Orphanet:1621 partial deletion of the long arm of chromosome 3