2p13.2 microdeletion syndrome
Synonyms: Del(2)(p13.2)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 2p13.2 microdeletion syndrome | Del(2)(p13.2) |
| fr | Syndrome de microdélétion 2p13.2 | = en |
| de | Mikrodeletionssyndrom 2p13.2 | = en |
| es | Síndrome de microdeleción 2p13.2 | = en |
| it | Sindrome da microdelezione 2p13.2 | = en |
| nl | 2p13.2-microdeletiesyndroom | = en |
| pt | Síndrome de microdeleção 2p13.2 | |
| pl | Zespół mikrodelecji 2p13.2 | = en |
| cs | Mikrodeleční syndrom 2p13.2 | = en |
| uk | Синдром мікроделеції 2p13.2 | = en |
| zh | 2p13.2微缺失综合征 | 2p13.2缺失 |
| tr | 2p13.2 mikrodelesyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0018207 | E | validated | |
| UMLS | C4749460 | 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 (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:261866Partial deletion of the short arm of chromosome 2 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 | 2 cases | Worldwide | Case(s) | Validated | 23837398[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363680
- This record as JSON: /data/d/363680.json