Albinism-Deafness Syndrome (ADFN)

Alias:
Albinism-Hearing Loss Syndrome
Albinism Deafness Syndrome
Adfn
Alds
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Albinism-Deafness Syndrome, also known as albinism-hearing loss syndrome, is related to tietz albinism-deafness syndrome and coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness. An important gene associated with Albinism-Deafness Syndrome is ADFN (Albinism-Deafness Syndrome). Affiliated tissues include skin and eye, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XLD
Newborn
<1/1000000
--
--
10

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

Title
PMID
Journal
Year
IF
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