Prata-Liberal-Goncalves syndrome
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Brachydactyly - scoliosis - carpal fusion
Acrodysplasia scoliosis
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Number of Symptoms
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4
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OrphanetNr:
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2956
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OMIM Id:
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ICD-10:
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UMLs:
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C2931761
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MeSH:
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C538180
C538277
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MedDRA:
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Snomed:
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndrome with brachydactyly
-Rare bone disease
-Rare developmental defect during embryogenesis
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1
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(HPO:0004279)
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Short palm |
Very frequent [Orphanet]
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323 / 7739
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2
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(HPO:0002650)
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Scoliosis |
Very frequent [Orphanet]
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705 / 7739
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3
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(HPO:0003298)
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Spina bifida occulta |
Frequent [Orphanet]
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67 / 7739
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4
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(HPO:0003422)
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Vertebral segmentation defect |
Frequent [Orphanet]
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95 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |