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Autosomal Recessive Nonsyndromic Deafness 124
An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
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Overview
An autosomal recessive nonsyndromic deafness characterized by congenital progressive sensorineural hearing loss that is caused by homozygous or compound heterozygous mutation in the PKHD1L1 gene on chromosome 8q23.
Resources
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