Deafness, Autosomal Dominant 33 (DFNA33)

Deafness, Autosomal Dominant 33(来自ICD-11)
别称:
Autosomal Dominant Nonsyndromic Deafness 33
Dfna33
Autosomal Dominant Nonsyndromic Hearing Loss 33
Autosomal Dominant Deafness 33
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Deafness, Autosomal Dominant 33, also known as autosomal dominant nonsyndromic deafness 33, is related to sensorineural hearing loss and contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, and has symptoms including tinnitus An important gene associated with Deafness, Autosomal Dominant 33 is ATP11A (ATPase Phospholipid Transporting 11A), and among its related pathways/superpathways is Protein-protein interactions at synapses. Related phenotypes are sensorineural hearing impairment and tinnitus
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MALACARDS
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5
57
3

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