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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 29-11-2010 |
Symbol | DFNBPT |
Location | 2q35 |
Name | neurosensory deafness, prelingual |
Other name(s) |
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Corresponding gene | BCS1L |
Other symbol(s) | SHLPT, PTD |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | connective tissue |
ear | |
Type | disease |
Remark(s) |
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