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Results 1 - 10 of 10 for Ear malformation
  1. SALL1 gene 
    ... of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations. It is uncertain how these mutations result in ...
    https://medlineplus.gov/genetics/gene/sall1 - Genetics
  2. EYA1 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. EYA1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of the same ... (renal) malformations. The two conditions are otherwise so similar that ...
    https://medlineplus.gov/genetics/gene/eya1 - Genetics
  3. SIX1 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. A few SIX1 gene mutations have also been found to cause branchiootic (BO) syndrome, which includes many of ... (renal) malformations. The two conditions are otherwise so similar that ...
    https://medlineplus.gov/genetics/gene/six1 - Genetics
  4. SIX5 gene 
    ... development of tissues in the neck and causes malformations of the ears and kidneys. BOR syndrome is considered part of a disease spectrum with a condition known as branchiootic (BO) syndrome, which ... malformations.Researchers now question whether mutations in the SIX5 ...
    https://medlineplus.gov/genetics/gene/six5 - Genetics
  5. TFAP2A gene 
    ... is characterized by skin anomalies on the neck, malformations of the eyes and ears, and distinctive facial features. Most TFAP2A gene mutations ...
    https://medlineplus.gov/genetics/gene/tfap2a - Genetics
  6. FLNA gene 
    ... It is characterized by hearing loss caused by malformations in tiny bones in the ears (ossicles), an opening in the roof of the ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  7. FGFR2 gene 
    ... include craniosynostosis, distinctive facial features, arm and leg malformations, and genitourinary abnormalities.The FGFR2 gene mutations that ... Hamel BC. FGFs, their receptors, and human limb malformations: clinical and molecular correlations. Am J Med Genet. ...
    https://medlineplus.gov/genetics/gene/fgfr2 - Genetics
  8. GJA1 gene 
    ... the GJA1 gene may also contribute to heart malformations, although the role of such a genetic change ... Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  9. SLC26A2 gene 
    ... of the disorder, which is also characterized by malformations of the hands, feet, and knees; abnormal curvature ...
    https://medlineplus.gov/genetics/gene/slc26a2 - Genetics
  10. PITX1 gene 
    ... in PITX1 cause a spectrum of lower-limb malformations including mirror-image polydactyly. Eur J Hum Genet. ...
    https://medlineplus.gov/genetics/gene/pitx1 - Genetics