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Nonsyndromic Hearing "Loss," Dominant
- ... TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7):825-34. ...
- ... Marlin S. The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. Am ...
- ... nonsyndromic. Researchers have identified several major types of nonsyndromic retinitis pigmentosa, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked.Less commonly, retinitis ...
- ... pheochromocytoma. KIF1B RET SDHA SDHB SDHD TMEM127 VHL Nonsyndromic paraganglioma can be inherited in an autosomal dominant pattern, which means one copy of the altered ...
- ... I; STL1 MARSHALL SYNDROME; MRSHS OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA STICKLER SYNDROME, TYPE II; STL2 STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR STICKLER SYNDROME, TYPE V; STL5 STICKLER SYNDROME, ...
- ... FGFR3 This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. FGFR3-associated coronal synostosis Muenke nonsyndromic coronal craniosynostosis Genetic Testing Registry: Muenke syndrome Muenke ...