Autosomal recessive nonsyndromic hearing loss 49

Synonyms: DFNB49 Nonsyndromic Hearing Loss and Deafness; Deafness, autosomal recessive 49; Deafness, neurosensory, autosomal recessive 49

Summary

Autosomal recessive deafness-49 (DFNB49) is characterized by prelingual profound sensorineural hearing loss at all frequencies (Riazuddin et al., 2006 and Chishti et al., 2008). [from OMIM]

Available tests

20 tests are in the database for this condition.

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Clinical tests (20 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

MARVELD2
36 tests
Also known as: DFNB49, MARVD2, MRVLDC2, Tric, MARVELD2
Summary: MARVEL domain containing 2

Imported from Human Phenotype Ontology (HPO)

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Ear malformation
- Prelingual sensorineural hearing impairment
  Prelingual sensorineural hearing impairment
  - MedGen UID: 867432
  - Concept ID: C4021806
  - Finding: Disease or Syndrome
  Ear malformation
  See: Feature record | Search on this feature

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