10q22.3q23.3 microduplication syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Dup(10)(q22.3q23.3) Trisomy 10q22.3q23.3 |
| Number of Symptoms | 21 |
| OrphanetNr: | 276422 |
| OMIM Id: |
|
| ICD-10: |
Q92.3 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial duplication of the long arm of chromosome 10
-Rare developmental defect during embryogenesis -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000062) | Ambiguous genitalia | Frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0000047) | Hypospadias | Frequent [Orphanet] | 250 / 7739 | |||
|
|
(HPO:0000164) | Abnormality of the teeth | Frequent [Orphanet] | 291 / 7739 | |||
|
|
(HPO:0000601) | Hypotelorism | Frequent [Orphanet] | 83 / 7739 | |||
|
|
(HPO:0000252) | Microcephaly | Frequent [Orphanet] | 832 / 7739 | |||
|
|
(HPO:0000582) | Upslanted palpebral fissure | Frequent [Orphanet] | 185 / 7739 | |||
|
|
(HPO:0000277) | Abnormality of the mandible | Frequent [Orphanet] | 394 / 7739 | |||
|
|
(HPO:0000288) | Abnormality of the philtrum | Frequent [Orphanet] | 54 / 7739 | |||
|
|
(HPO:0000293) | Full cheeks | Frequent [Orphanet] | 85 / 7739 | |||
|
|
(HPO:0000490) | Deeply set eye | Very frequent [Orphanet] | 131 / 7739 | |||
|
|
(HPO:0000337) | Broad forehead | Frequent [Orphanet] | 116 / 7739 | |||
|
|
(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
|
|
(HPO:0000389) | Chronic otitis media | Occasional [Orphanet] | 64 / 7739 | |||
|
|
(HPO:0000357) | Abnormal location of ears | Occasional [Orphanet] | 328 / 7739 | |||
|
|
(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
|
|
(HPO:0000772) | Abnormality of the ribs | Occasional [Orphanet] | 146 / 7739 | |||
|
|
(HPO:0006660) | Aplastic clavicles | Occasional [Orphanet] | 70 / 7739 | |||
|
|
(HPO:0030680) | Abnormality of cardiovascular system morphology | Frequent [Orphanet] | 355 / 7739 | |||
|
|
(HPO:0001636) | Tetralogy of Fallot | Occasional [Orphanet] | 104 / 7739 | |||
|
|
(HPO:0001428) | Somatic mutation | Very frequent [Orphanet] | 100 / 7739 | |||
|
|
(HPO:0012758) | Neurodevelopmental delay | Frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|