non-distal trisomy 13q https://github.com/monarch-initiative/mondo/issues/3492 https://www.malacards.org/card/non_distal_trisomy_13q MONDO:0015724 GARD:0018738 non-telomeric trisomy 13q SCTID:764996009 non-distal trisomy type 13q Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (incl. microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. Orphanet:1702 non-distal duplication 13q MEDGEN:1637117 UMLS:C4707260 chromosome 13q trisomy