Disease - Deafness, autosomal dominant 1, with or without thrombocytopenia
Definition
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. Patients may have mild thrombocytopenia and enlarged platelets, although most of DFNA1 affected individuals do not have significant bleeding tendencies.
Acronym
DFNA1
Synonyms
Hereditary low-frequency hearing loss
Hereditary low-frequency sensorineural hearing loss
Konigsmark syndrome
LFHL1
LFSNHL1
Non-syndromic neurosensory deafness autosomal dominant type 1
Non-syndromic sensorineural deafness autosomal dominant type 1
Hereditary low-frequency sensorineural hearing loss
Konigsmark syndrome
LFHL1
LFSNHL1
Non-syndromic neurosensory deafness autosomal dominant type 1
Non-syndromic sensorineural deafness autosomal dominant type 1
Keywords
Disclaimer
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