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Results 101 - 110 of 113 for Short ear
  1. Poikiloderma with neutropenia 
    ... calcinosis cutis), especially on the knees, elbows, or ears; or sores (ulcers) that do not easily heal. ... nasal bridge, and a chin that protrudes (prognathism). Short stature and hypogonadotropic hypogonadism (a condition affecting the ...
    https://medlineplus.gov/.../condition/poikiloderma-with-neutropenia - Genetics
  2. Alpha thalassemia X-linked intellectual disability syndrome 
    ... small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside- ... syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have ...
    https://medlineplus.gov/...x-linked-intellectual-disability-syndrome - Genetics
  3. ALG12-congenital disorder of glycosylation 
    ... folds), a prominent nasal bridge, and abnormally shaped ears. Some males with ALG12-CDG have abnormal genitalia, ... the resulting oligosaccharides are often incomplete. Although the short oligosaccharides can be transferred to proteins and fats, ...
    https://medlineplus.gov/...lg12-congenital-disorder-of-glycosylation - Genetics
  4. Atelosteogenesis type 1 
    ... the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  5. Boomerang dysplasia 
    ... the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  6. X-linked intellectual disability, Siderius type 
    ... fissures). Affected individuals may also have low-set ears and large hands. While X-linked intellectual disability ... Most PHF8 gene mutations lead to an abnormally short protein that gets transported out of the cell' ...
    https://medlineplus.gov/...ked-intellectual-disability-siderius-type - Genetics
  7. Schwartz-Jampel syndrome 
    ... and is present in the nose and external ears.Perlecan has multiple functions, including cell signaling and ...
    https://medlineplus.gov/genetics/condition/schwartz-jampel-syndrome - Genetics
  8. Lateral meningocele syndrome 
    ... and cheekbones (midface and malar hypoplasia); low-set ears; a long area between the nose and mouth ( ... result in a NOTCH3 protein with an abnormally short (truncated) NICD. The shortened protein is missing the ...
    https://medlineplus.gov/.../condition/lateral-meningocele-syndrome - Genetics
  9. Spinal muscular atrophy with progressive myoclonic epilepsy 
    ... loss caused by nerve damage in the inner ear (sensorineural hearing loss).Individuals with SMA-PME have ...
    https://medlineplus.gov/...rophy-with-progressive-myoclonic-epilepsy - Genetics
  10. Woodhouse-Sakati syndrome 
    ... and mild intellectual disabilities. Changes in the inner ears can lead to hearing loss (sensorineural hearing loss) ... syndrome result in a protein that is abnormally short and breaks down quickly or whose usual function ...
    https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome - Genetics
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