Cone-Rod Dystrophy and Hearing Loss 1 (CRDHL1)

Alias:
Cone-Rod Dystrophy and Hearing Loss
Crdhl1
Dystrophy, Cone-Rod, Hearing Loss
Deaf-Blind Disorders
Crdhl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Cone-Rod Dystrophy and Hearing Loss 1, also known as cone-rod dystrophy and hearing loss, is related to cone-rod dystrophy and hearing loss 2 and cone-rod dystrophy 2, and has symptoms including amaurosis fugax An important gene associated with Cone-Rod Dystrophy and Hearing Loss 1 is CEP78 (Centrosomal Protein 78). The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are sensorineural hearing impairment and visual impairment
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
4
6

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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Disease Model

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Name
MGI
Related Gene
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Publications
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References Literature

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