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Results 31 - 40 of 71 for Multiple skeletal anomalies
  1. ATN1 gene 
    ... vision and hearing problems, distinctive facial features, and skeletal abnormalities. Many affected individuals have brain malformations. The ATN1 ...
    https://medlineplus.gov/genetics/gene/atn1 - Genetics
  2. Gnathodiaphyseal dysplasia 
    ... to the fragile bones, jaw problems, and other skeletal abnormalities that occur in gnathodiaphyseal dysplasia. Researchers suggest that the mutations may affect the way cells process calcium, an important mineral in bone development and growth. ... type Genetic Testing Registry: ...
    https://medlineplus.gov/.../condition/gnathodiaphyseal-dysplasia - Genetics
  3. Potocki-Lupski syndrome 
    ... can include vision and hearing problems, dental and skeletal abnormalities, and abnormal kidney development and function. Many affected ...
    https://medlineplus.gov/genetics/condition/potocki-lupski-syndrome - Genetics
  4. Jacobsen syndrome 
    ... short stature; frequent ear and sinus infections; and skeletal abnormalities. The disorder can also affect the digestive system, ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  5. Potocki-Shaffer syndrome 
    ... commonly, Potocki-Shaffer syndrome causes vision problems, additional skeletal abnormalities, and defects in the heart, kidneys, and urinary ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  6. MTHFR gene 
    ... condition often develop eye problems, abnormal blood clotting, skeletal abnormalities, and learning problems. Most of the mutations that ...
    https://medlineplus.gov/genetics/gene/mthfr - Genetics
  7. Neurofibromatosis type 1 
    ... short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine ( ...
    https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1 - Genetics
  8. X chromosome 
    ... of this gene likely causes short stature and skeletal abnormalities seen in individuals with Turner syndrome. More About ...
    https://medlineplus.gov/genetics/chromosome/x - Genetics
  9. Chromosome 20 
    ... including intellectual disabilities, delayed development, distinctive facial features, skeletal abnormalities, and heart defects. Several different changes in the ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  10. ANKRD11 gene 
    ... upper front teeth and other unusual facial features, skeletal abnormalities, and intellectual disability. Most of these mutations lead ...
    https://medlineplus.gov/genetics/gene/ankrd11 - Genetics
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