non-distal trisomy 13q
Findings
No curated finding names non-distal trisomy 13q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0015724), read 2026-09-29. CC BY 4.0.
Features
27 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal antihelix morphologyHPOHP:0009738
- Very frequent (80% to 99% of cases)
- Abnormal eyelash morphologyHPOHP:0000499
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the earlobesHPOHP:0009906
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- HemangiomaHPOHP:0001028
- Very frequent (80% to 99% of cases)
Show the remaining 15
- Thin vermilion borderHPOHP:0000233
- Very frequent (80% to 99% of cases)
- TrigonocephalyHPOHP:0000243
- Very frequent (80% to 99% of cases)
- Wide intermamillary distanceHPOHP:0006610
- Very frequent (80% to 99% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Frequent (30% to 79% of cases)
- Abnormality of the dentitionHPOHP:0000164
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: non-distal trisomy 13q
- Also called
- non-distal duplication 13qnon-distal trisomy type 13qnon-telomeric trisomy 13q