Deafness, Autosomal Recessive 102 (DFNB102)

Deafness, Autosomal Recessive 102(来自ICD-11)

别称:

Dfnb102

Autosomal Recessive Nonsyndromic Deafness 102

Autosomal Recessive Nonsyndromic Hearing Loss 102

Deafness, Autosomal Recessive, Type 102

Deafness, Autosomal Recessive, 102

Autosomal Recessive Deafness 102

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, Autosomal Recessive 102, also known as dfnb102, is related to deafness, autosomal recessive and autosomal recessive nonsyndromic deafness 36. An important gene associated with Deafness, Autosomal Recessive 102 is EPS8 (EGFR Pathway Substrate 8, Signaling Adaptor), and among its related pathways/superpathways are Olfactory Signaling Pathway and RhoGDI Pathway. Related phenotypes are profound hearing impairment and Increased homologous recombination repair frequency

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