Presentation
Ears
- Hearing Impairment
Patients diagnosed with USH2A have congenital hearing impairment that ranges from moderate to severe and experience progressive vision loss beginning in the second decade of life. [scholarsbank.uoregon.edu]
Willems CRC Press, ١٧/١٠/٢٠٠٣ - 406 من الصفحات Heredity, either alone or in combination with environmental factors, is the most prominent underlying cause of hearing impairment. [books.google.com]
Møller Usher syndrome is an autosomal recessive disorder characterized by congenital hearing impairment, progressive visual loss owing to retinitis pigmentosa and in some cases vestibular dysfunction. [forskning.ku.dk]
impairment genetic mutation database External link #5 Reference mRNA NM_007123.4 External link #6 Reference protien NP_009054.4 For research use. [research.cchmc.org]
Workup
Microbiology
- Streptococcus Pneumoniae
pneumoniae) fission yeast (Schizosaccharomyces pombe) green algae (Chlamydomonas reinhardtii) honey bee (Apis mellifera) K. lactis yeast (Kluyveromyces lactis) loblloly pine (Pinus taeda) malaria parasite (Plasmodium falciparum) medicago trunc (Medicago [genecards.org]
- Toxoplasma Gondii
gondii) Trichoplax (Trichoplax adhaerens) wheat (Triticum aestivum) Evolution for USH2A Gene ENSEMBL: Gene Tree for USH2A (if available) TreeFam: Gene Tree for USH2A (if available) SNP ID Clin Chr 01 pos Sequence Context AA Info Type rs111033262 Likely [genecards.org]
- Plasmodium Falciparum
falciparum) medicago trunc (Medicago Truncatula) moss (Physcomitrella patens) orangutan (Pongo pygmaeus) pig (Sus scrofa) platypus (Ornithorhynchus anatinus) rainbow trout (Oncorhynchus mykiss) rice (Oryza sativa) rice blast fungus (Magnaporthe grisea [genecards.org]