TATTON-BROWN-RAHMAN SYNDROME
General Information (adopted from Orphanet):
Synonyms, Signs:
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Number of Symptoms
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6
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OrphanetNr:
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OMIM Id:
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615879
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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:
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No data available.
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Inheritance:
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Age of onset:
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Disease classification (adopted from Orphanet):
Parent Diseases:
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No data available.
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1
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(HPO:0000581)
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Blepharophimosis |
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197 / 7739
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2
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(HPO:0000311)
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Round face |
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104 / 7739
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3
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(HPO:0001250)
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Seizures |
rare [HPO:skoehler]
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1245 / 7739
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4
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(HPO:0002650)
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Scoliosis |
rare [HPO:skoehler]
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705 / 7739
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5
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(HPO:0001537)
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Umbilical hernia |
rare [HPO:skoehler]
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206 / 7739
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6
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(HPO:0001631)
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Atria septal defect |
rare [HPO:skoehler]
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274 / 7739
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ClinVar (via SNiPA)
Gene symbol |
Variation |
Clinical significance |
Reference |