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Autosomal dominant deafness -onychodystrophy syndrome
- ... of signs and symptoms associated with Baraitser-Winter syndrome. More About This Health Condition ... gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma- ...
- ... a condition called optic atrophy type 1 and deafness, which results in both vision loss and hearing loss. OPA1 mutations can also cause a condition known as autosomal dominant optic atrophy (ADOA)-plus syndrome. ADOA-plus syndrome involves vision and hearing loss, ...
- ... PubMed WOLFRAMIN ER TRANSMEMBRANE GLYCOPROTEIN; WFS1 WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT; WFSL NCBI Gene ClinVar Aloi C, Salina A, Pasquali L, Lugani F, Perri K, Russo C, Tallone R, Ghiggeri GM, Lorini R, d'Annunzio G. Wolfram syndrome: new mutations, different phenotype. PLoS One. 2012;7( ...
- ... F, Drira M, Ayadi H, Petit C. The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene. ...
- ... Verselis VK. Aberrant Cx26 hemichannels and keratitis-ichthyosis-deafness syndrome: ... Autosomal Recessive Nonsyndromic Hearing Loss. 1998 Sep 28 [updated ...
