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Items: 2

1.

Hearing loss, autosomal dominant 82

Autosomal dominant deafness-82 (DFNA82) is characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade, although later onset may rarely occur. Affected individuals often pass the newborn screening test before the onset of mild to profound hearing loss (Smits et al., 2019). [from OMIM]

MedGen UID:
1803416
Concept ID:
C5676948
Disease or Syndrome
2.

Autosomal recessive nonsyndromic hearing loss 12

A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D. [from NCI]

MedGen UID:
330455
Concept ID:
C1832394
Disease or Syndrome

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