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- Bb696d00c3313e4de5c00a725339997fc hasDbXref "Orphanet:383" @default.
- Bb696d00c3313e4de5c00a725339997fc type Axiom @default.
- Bb696d00c3313e4de5c00a725339997fc annotatedProperty IAO_0000115 @default.
- Bb696d00c3313e4de5c00a725339997fc annotatedSource MONDO_0010576 @default.
- Bb696d00c3313e4de5c00a725339997fc annotatedTarget "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss." @default.