Deafness, X-Linked 7 (DFNX7)

Alias:
X-Linked External Auditory Canal Atresia-Dilated Internal Auditory Canal-Facial Dysmorphism Syndrome
Dfnx7
X-Linked Deafness 7
Deafness, X-Linked, 7
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, X-Linked 7, also known as x-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome, is related to deafness, x-linked 6 and charcot-marie-tooth disease type 5. An important gene associated with Deafness, X-Linked 7 is GPRASP2 (G Protein-Coupled Receptor Associated Sorting Protein 2), and among its related pathways/superpathways are Cell adhesion_Plasmin signaling and Pentose phosphate pathway. Related phenotypes are hearing impairment and telecanthus
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLD
Newborn
<1/1000000
15
69
1

Medical Symptom

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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

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PMID
Journal
Year
IF
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