ORPHA:289513
12q15q21 microdeletion syndrome
Synonyms: Del(12)(q15)(q21) · Deletion 12q15q21 · Monosomy 12q15q21
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
This disease is described under Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 12q15q21 microdeletion syndrome | Del(12)(q15)(q21) · Deletion 12q15q21 · Monosomy 12q15q21 |
| fr | Syndrome de microdélétion 12q15q21 | Del(12)(q15)(q21) · Délétion 12q15q21 · Monosomie 12q15q21 |
| de | Mikrodeletionssyndrom 12q15q21.1 | Del(12)(q15)(q21.1) · Deletion 12q15q21.1 · Monosomie 12q15q21.1 |
| es | Síndrome de microdeleción 12q15q21 | Del(12)(q15)(q21) · Deleción 12q15q21 · Monosomía 12q15q21 |
| it | Sindrome da microdelezione 12q15q21.1 | Del(12)(q15)(q21.1) · Delezione 12q15q21.1 · Monosomia 12q15q21.1 |
| nl | 12q15q21-microdeletiesyndroom | Del(12)(q15)(q21) · Deletie 12q15q21 · Monosomie 12q15q21 |
| pt | Síndrome de microdeleção 12q15q21 | Del(12)(q15)(q21) · Deleção 12q15q21 · Monossomia 12q15q21 |
| pl | Zespół mikrodelecji 12q15q21.1 | Del(12)(q15)(q21.1) · Delecja 12q15q21.1 · Monosomia 12q15q21.1 |
| cs | Mikrodeleční syndrom 12q15q21.1 | Del(12)(q15)(q21.1) · Delece 12q15q21.1 · Monozomie 12q15q21.1 |
| uk | Синдром мікроделеції 12q15q21.1 | Del(12)(q15)(q21.1) · Делеція 12q15q21.1 · Моносомія 12q15q21.1 |
| zh | 12q15q21.1微缺失综合征 | 12q15q21.1单体 |
| tr | 12q15q21.1 mikrodelesyon sendromu | Del(12)(q15)(q21.1) · Delesyon 12q15q21.1 · Monozomi 12q15q21.1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618608 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0017334 | E | validated | |
| UMLS | C4518344 | 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 (2):
- ORPHA:697760Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases - 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CNOT2 | Role in the phenotype of | Assessed | HGNC:7878 | ENSG00000111596 | 604909 | 12q15 | CCR4-NOT transcription complex subunit 2 | 31145527[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 28159701[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28159701[PMID] |
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/289513
- This record as JSON: /data/d/289513.json