ORPHA:695611
3q27.1 microdeletion syndrome
Synonyms: Del(3)(q27.1) · Monosomy 3q27.1 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 3q27.1 microdeletion syndrome | Del(3)(q27.1) · Monosomy 3q27.1 syndrome |
| fr | Syndrome de microdélétion 3q27.1 | Del(3)(q27.1) · Syndrome de monosomie 3q27.1 |
| de | Mikrodeletionssyndrom 3q27.1 | Del(3)(q27.1) · Monosomie 3q27.1 |
| es | Síndrome de microdeleción 3q27.1 | Del(3)(q27.1) · Síndrome de monosomía 3q27.1 |
| it | Sindrome da microdelezione 3q27.1 | Del(3)(q27.1) · Sindrome da monosomia 3q27.1 · Monosomia 3q26q28 · Del(3)(q26q28) |
| nl | 3q27.1-microdeletiesyndroom | Del(3)(q27.1) · Monosomie 3q27.1-syndroom |
| pt | 3q26q28 microdeletion syndrome | |
| pl | 3q27.1 microdeletion syndrome | = en |
| cs | 3q27.1 microdeletion syndrome | = en |
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Cross-references
qualifier = Orphanet mapping relationNo cross-references in this release.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262019Partial deletion of the long arm of chromosome 3 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3569473q26q27 microdeletion syndrome moved to · inactive
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 35241116[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35241116[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/695611
- This record as JSON: /data/d/695611.json