Camptodactyly - taurinuria
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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3
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OrphanetNr:
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1325
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OMIM Id:
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ICD-10:
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Q68.1
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UMLs:
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C2931681
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MeSH:
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C537972
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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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4
families
[Orphanet]
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Inheritance:
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Autosomal dominant
[Orphanet]
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Age of onset:
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Neonatal
[Orphanet]
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Syndrome with limb malformations as a major feature
-Rare developmental defect during embryogenesis
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1
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(HPO:0001836)
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Camptodactyly of toe |
Very frequent [Orphanet]
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27 / 7739
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2
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(HPO:0100490)
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Camptodactyly of finger |
Very frequent [Orphanet]
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212 / 7739
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3
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(HPO:0004337)
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Abnormality of amino acid metabolism |
Very frequent [Orphanet]
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45 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |