Distal 7q11.23 microdeletion syndrome
Synonyms: Distal del(7)(q11.23) · Distal monosomy 7q11.23
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal 7q11.23 microdeletion syndrome is a rare chromosomal anomaly characterized by epilepsy, neurodevelopmental disorder variably including developmental delays and intellectual disabilities of variable severity, learning disability and neurobehavioral abnormalities (autism spectrum disorder, hyperactivity, impulsivity, aggression, self-abusive behaviors, depression).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal 7q11.23 microdeletion syndrome | Distal del(7)(q11.23) · Distal monosomy 7q11.23 |
| fr | Syndrome de microdélétion 7q11.23 distale | Del(7)(q11.23) distale · Monosomie 7q11.23 distale |
| de | Mikrodeletionssyndrom 7q11.23, distal | Del(7)(q11.23) · Monosomie 7q11.23, distal |
| es | Síndrome de microdeleción terminal 7q11.23 | Del(7)(q11.23) terminal · Distal del(7)(q11.23) · Monosomía terminal 7q11.23 |
| it | Sindrome da microdelezione 7q11.23 distale | Del(7)(q11.23) distale · Monosomia 7q11.23 distale · Monosomia distale 7q11.23 |
| nl | Distale 7q11.23-microdeletiesyndroom | Distale del(7)(q11.23) · Distale monosomie 7q11.23 |
| pt | Síndrome de microdeleção distal 7q11.23 | Monossomia distal 7q11.23 |
| pl | Zespół dystalnej mikrodelecji 7q11.23 | Dystalna del(7)(q11.23) · Dystalna monosomia 7q11.23 |
| cs | Syndrom distální mikrodelece 7q11.23 | Distální del(7)(q11.23) · Distální monozomie 7q11.23 |
| uk | Синдром дистальної мікроделеції 7q11.23 | Дистальний del(7)(q11.23) · Дистальна моносомія 7q11.23 |
| zh | 末端染色体7q11.23微缺失综合征 | 7q11.23远端单体 |
| tr | Distal 7q11.23 mikrodelesyon sendromu | Distal del (7) (q11.23) · Distal monozomi 7q11.23 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613729 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.70 | NTBT | index | validated |
| MONDO | 0013393 | E | validated | |
| UMLS | C4749584 | 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:262056Partial deletion of the long arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 41 cases | Worldwide | Case(s) | Validated | 23637006[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
12 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000717 | Autism | |
| HP:0007302 | Bipolar affective disorder | |
| HP:0002308 | Chiari malformation | |
| HP:0000252 | Microcephaly | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002132 | Porencephaly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/254351
- This record as JSON: /data/d/254351.json