distal trisomy 11q
Findings
No curated finding names distal trisomy 11q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (incl. brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0019885), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
Other names
5 names
Resolves to: distal trisomy 11q
- Also called
- Chromosome 11, Partial Trisomy 11qdistal duplication 11qdistal trisomy type 11qtelomeric duplication 11qtrisomy 11qter