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Results 1 - 10 of 22 for Congenital deafness
  1. Congenital deafness with labyrinthine aplasia, microtia, and microdontia 
    Congenital deafness with labyrinthine aplasia, microtia, and microdontia (also called LAMM syndrome) is a condition that affects development of the ears and teeth. ...
    https://medlineplus.gov/...rinthine-aplasia-microtia-and-microdontia - Genetics
  2. Vohwinkel syndrome 
    ... no history of the disorder in their family. Congenital deafness with keratopachydermia and constrictions of fingers and toes ...
    https://medlineplus.gov/genetics/condition/vohwinkel-syndrome - Genetics
  3. FGF3 gene 
    ... the FGF3 gene cause a condition known as congenital deafness with labyrinthine aplasia, microtia, and microdontia (also known ...
    https://medlineplus.gov/genetics/gene/fgf3 - Genetics
  4. Jervell and Lange-Nielsen syndrome 
    ... syndrome Cardioauditory syndrome of Jervell and Lange-Nielsen Deafness, congenital, and functional heart disease Jervell-Lange Nielsen syndrome ...
    https://medlineplus.gov/.../jervell-and-lange-nielsen-syndrome - Genetics
  5. SLC26A4 gene 
    ... as SLC26A4 Gene Mutations are Prominent Causes for Congenital Deafness. Cell Biochem Biophys. 2015 Sep;73(1):41- ... Identification of PENDRIN (SLC26A4) mutations in patients with congenital ... PDS causes non-syndromic recessive deafness. Nat Genet. 1998 Mar;18(3):215-7. ...
    https://medlineplus.gov/genetics/gene/slc26a4 - Genetics
  6. Björnstad syndrome 
    ... JL, Bazex J, Schwarze HP. Pili torti with congenital deafness (Bjornstad syndrome): a case report. Pediatr Dermatol. 1999 ...
    https://medlineplus.gov/genetics/condition/bjornstad-syndrome - Genetics
  7. CACNA1D gene 
    ... function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci. 2011 Jan;14(1):77-84. ...
    https://medlineplus.gov/genetics/gene/cacna1d - Genetics
  8. Alport syndrome 
    ... others have only hematuria (thin basement membrane nephropathy). Congenital hereditary hematuria Hematuria-nephropathy-deafness syndrome Hematuric hereditary nephritis Hemorrhagic familial nephritis Hemorrhagic ...
    https://medlineplus.gov/genetics/condition/alport-syndrome - Genetics
  9. DOORS syndrome 
    ... involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  10. TBC1D24 gene 
    ... involving multiple abnormalities that are present from birth (congenital). "DOORS" is an abbreviation for the major features of the disorder including deafness; short or absent nails (onychodystrophy); short fingers and ...
    https://medlineplus.gov/genetics/gene/tbc1d24 - Genetics
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