distal trisomy 13q
Findings
No curated finding names distal trisomy 13q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (incl. microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0019886), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
4 names
Resolves to: distal trisomy 13q
- Also called
- distal duplication 13qdistal trisomy type 13qtelomeric duplication 13qtrisomy 13qter