TESTES, RUDIMENTARY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
273150
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0003241) | External genital hypoplasia | 25 / 7739 | ||||
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(HPO:0000815) | Hypergonadotropic hypogonadism | 48 / 7739 | ||||
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(HPO:0008734) | Decreased testicular size | 105 / 7739 | ||||
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(OMIM) | Normal chromosomes | 5 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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