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high myopia-sensorineural deafness syndrome

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description High myopia-sensorineural deafness syndrome is a rare genetic disease characterized by high myopia, typically ranging from -6.0 to -11.0 diopters, and moderate to profound, bilateral, progressive sensorineural hearing loss with prelingual-onset. Affected individuals do not present other systemic, ocular or connective tissue manifestations.
Uniprot Description An autosomal recessive disorder characterized by prelingual sensorineural hearing loss associated with high myopia.
Mondo Term and Equivalent IDs
MONDO:0009082:  high myopia-sensorineural deafness syndrome
DOID:0111628: 
GARD:0012844: 
Orphanet:363396: 
SCTID:720506002: 
UMLS:CN204687: