Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive (KIDAR)

Alias:
Ichthyosiform Erythroderma, Corneal Involvement, and Deafness
Kid Syndrome, Autosomal Recessive
Desmons Syndrome
Autosomal Recessive Keratitis-Ichthyosis-Deafness Syndrome
Kidar
Ichthyosiform Erythroderma, Corneal Involvement, Deafness
Ichthyosiform Erythroderma Corneal Involvement Deafness
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive, also known as ichthyosiform erythroderma, corneal involvement, and deafness, is related to kid syndrome and keratitis, hereditary, and has symptoms including photophobia An important gene associated with Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive is AP1B1 (Adaptor Related Protein Complex 1 Subunit Beta 1). Affiliated tissues include skin and bone marrow, and related phenotypes are intellectual disability and global developmental delay
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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
10

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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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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IF
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