High myopia-sensorineural deafness syndrome
- Synonyms
- Deafness and Myopia Syndrome; Deafness and myopia
- Modes of inheritance
- Autosomal recessive inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Deafness and myopia (DFNMYP) syndrome is characterized by bilateral, congenital or prelingual deafness (sensorineural hearing loss or auditory neuropathy spectrum disorder) and high myopia (>-6 diopters). In individuals with a molecularly confirmed diagnosis reported to date, hearing loss was progressive and severity ranged from moderate to profound. Vestibular testing was normal. Myopia was diagnosed at infancy or early childhood.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Jessica L Ordonez
- Mustafa Tekin
- view full author information
Available tests
19 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (19 available)
Clinical features
Help- Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- High myopia
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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