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Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities

Alias:
Thickened Earlobes-Conductive Deafness Syndrome
Thickened Earlobes-Conductive Hearing Loss Syndrome
Escher-Hirt Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Earlobes, Thickened, with Conductive Deafness from Incudostapedial Abnormalities, also known as thickened earlobes-conductive deafness syndrome, is related to microtia. Related phenotypes are micrognathia and abnormality of the middle ear ossicles
Related ID：
MALACARDS：ERL045
OMIM：128980

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
--
--
3
ERL045

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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