Distal trisomy 14q
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Trisomy 14qter Distal duplication 14q Telomeric duplication 14q |
| Number of Symptoms | 10 |
| OrphanetNr: | 1705 |
| OMIM Id: |
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| ICD-10: |
Q92.3 |
| UMLs: |
C2931702 |
| MeSH: |
C538034 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Partial duplication of the long arm of chromosome 14
-Rare developmental defect during embryogenesis -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic epicanthus -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000072) | Hydroureter | Frequent [Orphanet] | 146 / 7739 | |||
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(HPO:0000501) | Glaucoma | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0000365) | Hearing impairment | Frequent [Orphanet] | 539 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0012303) | Abnormality of the aortic arch | Frequent [Orphanet] | 57 / 7739 | |||
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(HPO:0001643) | Patent ductus arteriosus | Frequent [Orphanet] | 228 / 7739 | |||
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(HPO:0002101) | Abnormal lung lobation | Frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(HPO:0007370) | Aplasia/Hypoplasia of the corpus callosum | Frequent [Orphanet] | 180 / 7739 | |||
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(HPO:0001428) | Somatic mutation | Very frequent [Orphanet] | 100 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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