autosomal recessive nonsyndromic hearing loss 49
An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
MONDO:0019588
hearing loss, autosomal recessive
is_a
DFNB49
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MARVELD2 autosomal recessive nonsyndromic deafness
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autosomal recessive deafness 49
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autosomal recessive nonsyndromic deafness 49
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autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2
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autosomal recessive nonsyndromic deafness type 49
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autosomal recessive nonsyndromic hearing loss 49
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deafness, autosomal recessive 49
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deafness, autosomal recessive type 49
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