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Results 61 - 70 of 70 for ear disorders
  1. RUNX2 gene 
    ... is present in the nose, airways, and external ears.The RUNX2 protein is a ... called metaphyseal dysplasia, maxillary hypoplasia, and brachydactyly (MDMHB). ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  2. MT-TS1 gene 
    ... mutation are limited to cells in the inner ear and the skin in this condition. More About This Health ... on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec;16(12):1255- ...
    https://medlineplus.gov/genetics/gene/mt-ts1 - Genetics
  3. COL4A5 gene 
    ... in the basement membranes of the kidney, inner ear, and eye. In the kidney, other types of ... syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine ( ...
    https://medlineplus.gov/genetics/gene/col4a5 - Genetics
  4. SLC19A2 gene 
    ... characterized by hearing loss, diabetes, and a blood disorder called ... as active in the inner ear, the bone marrow (where blood cells are made), ...
    https://medlineplus.gov/genetics/gene/slc19a2 - Genetics
  5. COL4A4 gene 
    ... in the basement membranes of the kidney, inner ear, and eye. In the kidney, other types of ... syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. Medicine ( ...
    https://medlineplus.gov/genetics/gene/col4a4 - Genetics
  6. COL4A3 gene 
    ... also lead to abnormal function in the inner ear, resulting in hearing loss, and changes in ... a unified classification of genetic disorders of collagen IV alpha345: a position paper of ...
    https://medlineplus.gov/genetics/gene/col4a3 - Genetics
  7. KCNQ1 gene 
    ... to properly transport potassium ions in the inner ear and cardiac muscle leads to ... seizures, and psychotic disorders, can lead to an abnormal heart rhythm in ...
    https://medlineplus.gov/genetics/gene/kcnq1 - Genetics
  8. SLC3A1 gene 
    ... eyelashes, a flat nasal bridge, and abnormally turned ears. ... G, Creemers JW. Multi-system disorder syndromes associated with cystinuria type I. Curr Mol ...
    https://medlineplus.gov/genetics/gene/slc3a1 - Genetics
  9. PAX2 gene 
    ... is involved in the formation of the eyes, ears, brain and spinal cord (central nervous ... MA, Schimmenti LA, Eccles MR. PAX2-Related Disorder. 2007 Jun 8 [updated 2018 Feb 8]. In: ...
    https://medlineplus.gov/genetics/gene/pax2 - Genetics
  10. BCS1L gene 
    ... III. Researchers believe that tissues in the inner ears and hair follicles are ... syndrome, a lethal metabolic disorder with iron overload, is caused by a point ...
    https://medlineplus.gov/genetics/gene/bcs1l - Genetics
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