Short stature - deafness - neutrophil dysfunction - dysmorphism
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Thong-Douglas-Ferrante syndrome
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Number of Symptoms
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7
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OrphanetNr:
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2866
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OMIM Id:
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ICD-10:
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Q87.1
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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:
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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):
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Parent Diseases:
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Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease
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1
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(HPO:0001363)
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Craniosynostosis |
Frequent [Orphanet]
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132 / 7739
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2
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(HPO:0000501)
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Glaucoma |
Frequent [Orphanet]
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180 / 7739
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3
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(HPO:0000407)
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Sensorineural hearing impairment |
Frequent [Orphanet]
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524 / 7739
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4
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(HPO:0001545)
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Anteriorly placed anus |
Frequent [Orphanet]
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55 / 7739
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5
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(HPO:0004322)
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Short stature |
Frequent [Orphanet]
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1232 / 7739
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6
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(HPO:0002664)
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Neoplasm |
Occasional [Orphanet]
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111 / 7739
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7
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(HPO:0010978)
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Abnormality of immune system physiology |
Frequent [Orphanet]
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148 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |