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GTR Home > Conditions/Phenotypes > Autosomal recessive nonsyndromic hearing loss 4

Autosomal recessive nonsyndromic hearing loss 4

Synonyms
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT, DIGENIC; Deafness, autosomal recessive 4; Deafness, autosomal recessive 4, with enlarged vestibular aqueduct; Enlarged vestibular aqueduct, digenic; FOXI1-Related Pendred Syndrome; KCNJ10-Related Pendred Syndrome; NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4; Nonsyndromic enlarged vestibular aqueduct (NSEVA)

Summary

Excerpted from the GeneReview: Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct
Pendred syndrome / nonsyndromic enlarged vestibular aqueduct (PDS/NSEVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL) that is usually congenital and often severe to profound (although mild-to-moderate progressive hearing impairment also occurs), vestibular dysfunction, and temporal bone abnormalities (bilateral enlarged vestibular aqueduct with or without cochlear hypoplasia). PDS also includes development of euthyroid goiter in late childhood to early adulthood whereas NSEVA does not.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Richard JH Smith
Yoichiro Iwasa
Amanda M Schaefer
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Available tests

85 tests are in the database for this condition.

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Clinical tests (85 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FKH10, FKHL10, FREAC-6, FREAC6, HFH-3, HFH3, FOXI1
    Summary: forkhead box I1

  • Also known as: BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME, KCNJ10
    Summary: potassium inwardly rectifying channel subfamily J member 10

  • Also known as: DFNB4, EVA, PDS, TDH2B, SLC26A4
    Summary: solute carrier family 26 member 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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