X-linked mixed hearing loss with perilymphatic gusher
- Synonyms
- DFNX2 Nonsyndromic Hearing Loss and Deafness; Deafness 3 conductive with stapes fixation; Deafness conductive with stapes fixation; Deafness mixed with perilymphatic gusher; Deafness, X-linked 2; Dfn 3 nonsyndromic hearing loss and deafness; Gusher syndrome; Nance deafness; Perilymphatic Gusher-deafness syndrome; Sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (53 available)
Genes See tests for all associated and related genes
Also known as: BAPS, CX26, DFNA3, DFNA3A, DFNB1, DFNB1A, HID, KID, NSRD1, PPK, GJB2
Summary: gap junction protein beta 2Also known as: CX30, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, HED, HED2, GJB6
Summary: gap junction protein beta 6Also known as: BRAIN-4, BRN-4, BRN4, DFN3, DFNX2, OCT-9, OTF-9, OTF9, POU3F4
Summary: POU class 3 homeobox 4
Clinical features
Help- Ear malformation
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
Ear malformation
- Congenital sensorineural hearing impairment
Congenital sensorineural hearing impairment
- MedGen UID: 356101
- Concept ID: C1865866
- Finding: Disease or Syndrome
Ear malformation
- Dilatated internal auditory canal
Dilatated internal auditory canal
- MedGen UID: 382996
- Concept ID: C2676973
- Finding: Finding
Ear malformation
- Mixed hearing impairment
Mixed hearing impairment
- MedGen UID: 102336
- Concept ID: C0155552
- Finding: Disease or Syndrome
Ear malformation
- Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment
- MedGen UID: 335894
- Concept ID: C1843156
- Finding: Disease or Syndrome
Ear malformation
- Stapes ankylosis
Stapes ankylosis
- MedGen UID: 350008
- Concept ID: C1861326
- Finding: Anatomical Abnormality
Ear malformation
- Conductive hearing impairment
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