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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

An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutation in the CDH23 gene on chromosome 10q22. [from MONDO]

MedGen UID:
330455
Concept ID:
C1832394
Disease or Syndrome

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