Term Name: | autosomal recessive nonsyndromic deafness 49 |
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Synonyms: | autosomal recessive deafness 49, DFNB49 |
Definition: | An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. |
Ontology: | Human Disease [DOID:0110506] ( DOID:0110506 ) |