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Results 131 - 140 of 160 for Short ear
  1. Christianson syndrome 
    ... long, narrow face with prominent nose, jaw, and ears; an open mouth and uncontrolled drooling; and abnormal ... the SLC9A6 gene typically lead to an abnormally short NHE6 protein that is nonfunctional or that is ...
    https://medlineplus.gov/genetics/condition/christianson-syndrome - Genetics
  2. FG syndrome 
    ... have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of ...
    https://medlineplus.gov/genetics/condition/fg-syndrome - Genetics
  3. Mosaic variegated aneuploidy syndrome 
    ... as a broad nasal bridge and low-set ears. Some affected individuals have brain abnormalities, the most ... people with MVA syndrome type 2 have unusually short arms. Individuals with MVA syndrome type 2 do ...
    https://medlineplus.gov/.../mosaic-variegated-aneuploidy-syndrome - Genetics
  4. Roberts syndrome 
    ... the mouth (cleft palate), a small chin (micrognathia), ear abnormalities, wide-set eyes (hypertelorism), outer corners of ...
    https://medlineplus.gov/genetics/condition/roberts-syndrome - Genetics
  5. Mucolipidosis III alpha/beta 
    ... over time. Affected individuals may also develop frequent ear and respiratory infections. About half of people with ...
    https://medlineplus.gov/.../condition/mucolipidosis-iii-alpha-beta - Genetics
  6. Mucolipidosis II alpha/beta 
    ... respiratory infections. Affected individuals may also have recurrent ear infections, which can lead to hearing loss. Mucolipidosis ...
    https://medlineplus.gov/.../condition/mucolipidosis-ii-alpha-beta - Genetics
  7. GJA1 gene 
    ... many tissues such as the eyes, skin, bone, ears, heart, and brain, and it plays a role ... making connexin 43. As a result, an abnormally short, nonfunctional protein is produced.Gap junctions formed with ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  8. CHST3-related skeletal dysplasia 
    ... and is present in the nose and external ears. Mutations in the CHST3 gene reduce or eliminate ...
    https://medlineplus.gov/.../chst3-related-skeletal-dysplasia - Genetics
  9. 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
  10. 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
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