Non-distal duplication 9q syndrome
Synonyms: Non-distal trisomy 9q · Non-telomeric trisomy 9q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-distal duplication 9q syndrome | Non-distal trisomy 9q · Non-telomeric trisomy 9q |
| fr | Syndrome de duplication non distale 9q | Duplication non télomérique 9q · Trisomie non distale 9q · Trisomie non télomérique 9q |
| de | Nicht-distale Duplikation 9q | Duplikation 9q, nicht-distale · Nicht-distale Trisomie 9q · Nicht-telomere Trisomie 9q |
| es | Síndrome de duplicación intersticial 9q | Trisomía intersticial 9q · Trisomía no terminal 9q |
| it | Sindrome duplicazione 9q non distale | Trisomia 9q non distale · Trisomia 9q non telomerica |
| nl | Niet-distale duplicatie 9q-syndroom | Niet-distale trisomie 9q · Niet-telomerische trisomie 9q |
| pt | Duplicação não-distal 9q | Trissomia não-distal 9q · Trissomia não-telomérica 9q |
| pl | Zespół nietelomerowej duplikacji 9q | Trisomia interstycjalna 9q · Duplikacja interstycjalna 9q · Nietelomerowa duplikacja 9q |
| cs | Non-distální trizomie 9q | Non-distální duplikace 9q · Non-telomerická trizomie 9q |
| uk | Недистальна дуплікація 9q | Недистальна трисомія 9q · Нетеломерна трисомія 9q |
| zh | 9号染色体长臂非远端三体 | 9号染色体长臂非远端重复 |
| tr | Distal olmayan trizomi 9q | Telomerik olmayan trizomi 9q · Distal olmayan duplikasyon 9q |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.3 | NTBT | attributed | validated |
| ICD-11 | LD41.80 | NTBT | index | validated |
| MONDO | 0019890 | E | validated | |
| UMLS | C4707261 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:262905Partial duplication of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96112
- This record as JSON: /data/d/96112.json