Table 3.

Allelic Disorders

ADGRV1 Familial febrile seizures (OMIM 604352)ADA pathogenic nonsense variant was found in 1 of 48 families w/febrile seizures.
USH2A Nonsyndromic retinitis pigmentosa 1ARCommon cause of nonsyndromic AR retinitis pigmentosa
WHRN Nonsyndromic hearing loss (DFNB31) (See Hereditary Hearing Loss and Deafness Overview.)AR

AD = autosomal dominant; AR = autosomal recessive; DFNB = nonsyndromic deafness, autosomal recessive; MOI = mode of inheritance


From: Usher Syndrome Type II

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