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Results 91 - 100 of 160 for Short ear
  1. COL2A1 gene 
    ... that is present in the nose and external ears. Type II collagen is also part of the inner ear, the clear gel that fills the eyeball (the ... rare disorder of bone development is characterized by short arms and legs, a narrow chest with short ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  2. COL11A1 gene 
    ... and is present in the nose and external ears. Type XI collagen is also part of the inner ear; the vitreous, which is the clear gel that ... and causing changes in the eye and inner ear that lead to vision and hearing problems.In ...
    https://medlineplus.gov/genetics/gene/col11a1 - Genetics
  3. Diastrophic dysplasia 
    ... mouth (a cleft palate). Swelling of the external ears is also common in newborns and can lead to thickened, deformed ears.The signs and symptoms of diastrophic dysplasia are ...
    https://medlineplus.gov/genetics/condition/diastrophic-dysplasia - Genetics
  4. Weissenbacher-Zweymüller syndrome 
    ... and is present in the nose and external ears. Type XI collagen is also part of the inner ear and the nucleus pulposus, which is the center ... body, including the long bones, spine, and inner ears, which impairs bone development and underlies the other ...
    https://medlineplus.gov/.../weissenbacher-zweymuller-syndrome - Genetics
  5. Cleidocranial dysplasia 
    ... hearing loss and are prone to sinus and ear infections. Some young children with this condition are ... is present in the nose, airways, and external ears.The RUNX2 protein is a transcription factor, which ...
    https://medlineplus.gov/genetics/condition/cleidocranial-dysplasia - Genetics
  6. CLCNKB gene 
    ... Kb channels are also located in the inner ear, where they play a role in normal hearing. ... is also found in the kidneys and inner ear. A combination of CLCNKA and CLCNKB gene mutations ...
    https://medlineplus.gov/genetics/gene/clcnkb - Genetics
  7. USH2A gene 
    ... is found in basement membranes in the inner ear and in the retina, which is the layer ... development and maintenance of cells in the inner ear and retina. The protein complex may also be ...
    https://medlineplus.gov/genetics/gene/ush2a - Genetics
  8. Saethre-Chotzen syndrome 
    ... growth line that goes over the head from ear to ear. Other parts of the skull may be malformed ... with Saethre-Chotzen syndrome also have small, rounded ears.The signs and symptoms of Saethre-Chotzen syndrome ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  9. Kaufman oculocerebrofacial syndrome 
    ... the eyes that point upward (upslanting palpebral fissures). Ear abnormalities include low-set ears with small lobes and growths of skin (skin tags) in front of the ear (preauricular tags). The nose has a narrow bridge, ...
    https://medlineplus.gov/.../kaufman-oculocerebrofacial-syndrome - Genetics
  10. Achondrogenesis 
    ... and is present in the nose and external ears. Malfunction of the Golgi apparatus in chondrocytes likely ...
    https://medlineplus.gov/genetics/condition/achondrogenesis - Genetics
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