Autosomal Recessive 4 Deafness

A hereditary autosomal recessive disorder characterized by the onset of SENSORINEURAL HEARING LOSS or MIXED HEARING LOSS typically in infancy. It is associated with TEMPORAL BONE abnormalities, especially an enlarged vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. Mutations have been identified in the SLC26A4 gene, and more rarely the FOXI1 gene for enlarged vestibular aqueduct. OMIM: 600791

Also Known As:

Deafness, Autosomal Recessive 4; Dilated Vestibular Aqueduct; Enlarged Vestibular Aqueduct; Neurosensory Nonsyndromic Recessive Deafness 4

Otorhinolaryngologic Diseases: 203
- Ear Diseases: 261
  - Hearing Disorders: 325
    - Hearing Loss: 12265
      - Sensorineural Hearing Loss: 3974
        Autosomal Recessive 4 Deafness: 72
Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Sensation Disorders: 117
    - Hearing Disorders: 325
      - Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Autosomal Recessive 4 Deafness: 72
Signs and Symptoms Pathological Conditions
- Signs and Symptoms
  - Neurologic Manifestations: 7102
    - Sensation Disorders: 117
      - Hearing Disorders: 325
        Hearing Loss: 12265
        Sensorineural Hearing Loss: 3974
        Autosomal Recessive 4 Deafness: 72
Sense Organs
- Ear
  - Inner Ear
    - Labyrinth Vestibule
      - Vestibular Aqueduct
        Autosomal Recessive 4 Deafness: 72
- Vestibular System
  - Labyrinth Vestibule
    - Vestibular Aqueduct
      - Autosomal Recessive 4 Deafness: 72

Manuel Sainz Quevedo Selected Research

Manuel Sainz Quevedo Research Topics

Disease

Therapy/Procedure