SCIENTIFIC BACKGROUND

ABHD12, ADGRV1, AIFM1, ATP6V1B1, BSND, CACNA1D, CDH23, CLPP, CLRN1, DIAPH3, EDN3, EDNRB, ERAL1, EYA1, FOXI1, GPSM2, HARS, HSD17B4, KCNE1, KCNJ10, KCNQ1, LARS2, MITF, MYH9, MYO7A, PAX3, PCDH15, PDZD7, SIX5, SLC26A4, SLITRK6, SNAI2, SOX10, TWNK, USH1C, USH1G, USH2A, WFS1, WHRN

Category:

Syndromic deafness or hearing loss refers to hearing loss that occurs as part of a more complex syndrome and has genetic causes. This form of hearing impairment is often associated with other physical or neurological symptoms, such as Usher syndrome, Waardenburg syndrome or Pendred syndrome.

 

Diagnosis requires a comprehensive clinical evaluation to assess both hearing and other associated symptoms. Early detection and management are crucial to improve the quality of life of those affected.

GENES

ABHD12, ADGRV1, AIFM1, ATP6V1B1, BSND, CACNA1D, CDH23, CLPP, CLRN1, DIAPH3, EDN3, EDNRB, ERAL1, EYA1, FOXI1, GPSM2, HARS, HSD17B4, KCNE1, KCNJ10, KCNQ1, LARS2, MITF, MYH9, MYO7A, PAX3, PCDH15, PDZD7, SIX5, SLC26A4, SLITRK6, SNAI2, SOX10, TWNK, USH1C, USH1G, USH2A, WFS1, WHRN

ASSOCIATED TESTS

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