Conductive deafness - malformed external ear
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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13
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OrphanetNr:
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3216
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OMIM Id:
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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:
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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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No data available.
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1
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(HPO:0002705)
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High, narrow palate |
Frequent [Orphanet]
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308 / 7739
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2
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(HPO:0009796)
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Branchial cyst |
Occasional [Orphanet]
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32 / 7739
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3
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(HPO:0004452)
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Abnormality of the middle ear ossicles |
Frequent [Orphanet]
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26 / 7739
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4
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(HPO:0000357)
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Abnormal location of ears |
Very frequent [Orphanet]
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328 / 7739
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5
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(HPO:0000407)
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Sensorineural hearing impairment |
Occasional [Orphanet]
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524 / 7739
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6
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(HPO:0000405)
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Conductive hearing impairment |
Very frequent [Orphanet]
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164 / 7739
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7
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(HPO:0008544)
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Abnormally folded helix |
Frequent [Orphanet]
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24 / 7739
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8
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(HPO:0000384)
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Preauricular skin tag |
Occasional [Orphanet]
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62 / 7739
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9
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(HPO:0000372)
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Abnormality of the auditory canal |
Occasional [Orphanet]
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49 / 7739
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10
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(HPO:0008772)
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Aplasia/Hypoplasia of the external ear |
Very frequent [Orphanet]
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67 / 7739
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11
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(HPO:0008373)
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Puberty and gonadal disorders |
Frequent [Orphanet]
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156 / 7739
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12
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(HPO:0004299)
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Hernia of the abdominal wall |
Occasional [Orphanet]
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176 / 7739
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13
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(HPO:0012758)
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Neurodevelopmental delay |
Frequent [Orphanet]
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949 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |