Results 1 -
10
of
23
for
Hearing "loss," "X-linked" 4
- ... KY, Choi JY, Bok J, Kim UK. Nonsyndromic X-linked hearing loss. Front Biosci (Elite Ed). 2012 Jan 1;4(3):924-33. doi: 10.2741/E430. Citation ...
- ... DISEASE, TYPE 4A; CMT4A CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 ROUSSY-LEVY HEREDITARY AREFLEXIC DYSTASIA ...
- ... are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked ...
- ... X-linked chondrodysplasia punctata 1 include delayed development, hearing loss, vision abnormalities, and heart defects. The prevalence of X-linked chondrodysplasia punctata 1 is unknown. Several dozen affected ...
- ... the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early ...
- ... but some people experience more severe symptoms. Significant hearing loss, eye abnormalities, and progressive kidney disease are more common in males with the X-linked form of Alport syndrome than in affected females. ...
- ... intellectual deficit, Najm type Genetic Testing Registry: Syndromic X-linked intellectual disability Najm type CASK-Related Disorders National Organization for Rare Disorders (NORD) FG SYNDROME 4; FGS4 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE ...
- ... interfere with its ability to bind to frizzled-4, resulting in the signs and symptoms of Norrie disease. NDP This condition is inherited in an X-linked recessive pattern. A condition is considered X-linked ...
- ... characterized by the combination of vision loss and hearing loss beginning early in life. Retinitis ... States and Europe. ...
- ... Frontometaphyseal Dysplasia. Am J Hum Genet. 2016 Aug 4;99(2):392-406. doi: 10.1016/j.ajhg.2016.05.024. Epub 2016 Jul 15. Citation on PubMed Wade EM, Halliday BJ, Jenkins ZA, O'Neill AC, Robertson SP. The X-linked filaminopathies: Synergistic insights from clinical and molecular analysis. ...