has material basis in germline mutation in POU3F4 inner ear disorder X-linked mixed hearing loss with perilymphatic gusher https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/551 https://www.malacards.org/card/deafness_x_linked_2 ICD9:389.1 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. X-linked mixed deafness with perilymphatic gusher DFN3 GARD:0004504 Nance deafness gusher syndrome X-linked mixed conductive and sensorineural deafness deafness mixed with perilymphatic gusher, X-linked MONDO:0010576 X-linked mixed conductive and neurosensory deafness deafness mixed with perilymphatic gusher perceptive hearing loss or deafness DFNX2 DFN 3 nonsyndromic hearing loss and deafness OMIM:304400 deafness, conductive, with stapes fixation ICD9:389.14 ICD9:389.10 UMLS:C1844678 MedDRA:10040016 central hearing loss high frequency hearing loss perceptive hearing loss deafness, X-linked 2, X-linked recessive X-linked mixed hearing loss with perilymphatic gusher deafness, mixed, with perilymphatic gusher perilymphatic gusher-deafness syndrome X-linked deafness type 2 conductive deafness with stapes fixation high frequency deafness deafness, X-linked type 2 sensorineural hearing loss sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental Abnormality of the Ear Orphanet:383 DOID:0111737 deafness 3, conductive, with stapes fixation MEDGEN:336750 perceptive deafness sensory hearing loss high-frequency hearing loss deafness, X-linked 2 deafness 3 conductive with stapes fixation sensorineural deafness deafness conductive with stapes fixation prelingual non-syndromic genetic hearing loss hereditary otorhinolaryngologic disease X-linked nonsyndromic hearing loss