ORPHA:96160
Non-distal deletion 12q syndrome
Synonyms: Non-distal monosomy 12q · Non-telomeric monosomy 12q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-distal deletion 12q syndrome | Non-distal monosomy 12q · Non-telomeric monosomy 12q |
| fr | Syndrome de délétion non distale 12q | Monosomie non télomérique 12q · Délétion non télomérique 12q · Monosomie non distale 12q |
| de | Nicht-distale Deletion 12q | Deletion 12q, nicht-distale · Nicht-distale Monosomie 12q · Nicht-telomere Monosomie 12q |
| es | Síndrome de deleción intersticial 12q | Deleción no distal 12q · Monosomía intersticial 12q · Monosomía no terminal 12q |
| it | Sindrome delezione 12q non distale | Monosomia 12q non telomerica · Monosomia 12q non distale |
| nl | Niet-distale deletie 12q-syndroom | Niet-distale monosomie 12q · Niet-telomerische monosomie 12q |
| pt | Deleção não-distal 12q | Monossomia não-distal 12q · Monossomia não-telomérica 12q |
| pl | Zespół nietelomerowej delecji 12q | Delecja interstycjalna 12q · Monosomia nietelomerowa 12q · Nietelomerowa delecja 12q |
| cs | Non-distální monozomie 12q | Non-distální delece 12q · Non-telomerická monozomie 12q |
| uk | Недистальна делеція 12q | Недистальна моносомія 12q · Нетеломерна моносомія 12q |
| zh | 12号染色体长臂非远端单体 | 12号染色体长臂非端粒缺失 |
| tr | Distal olmayan monozomi 12q | Distal olmayan delesyon 12q · Telomerik olmayan monozomi 12q |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0019900 | E | validated | |
| UMLS | C5190525 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:261821Partial deletion of the long arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96160
- This record as JSON: /data/d/96160.json