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Usher syndrome type 2C

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description A form of Usher syndrome type 2 that features a heterozygous frameshift mutation in the GPR98 gene and a heterozygous frameshift mutation in the PDZD7 gene. It is inherited in an autosomal recessive manner.
Uniprot Description USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Mondo Term and Equivalent IDs
MONDO:0011558:  Usher syndrome type 2C
GARD:0008497: 
MESH:C536492: 
NCIT:C153174: