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Results 1 - 10 of 59 for Proximal
  1. Proximal 18q deletion syndrome 
    Proximal 18q deletion syndrome is a chromosomal condition that occurs when a piece of the long (q) arm of chromosome 18 is missing. The term "proximal" means that ...
    https://medlineplus.gov/.../condition/proximal-18q-deletion-syndrome - Genetics
  2. Spinal muscular atrophy with lower extremity predominance 
    ... disorder in their family. Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures Kugelberg-Welander syndrome, autosomal dominant Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures SMA-LED Spinal ...
    https://medlineplus.gov/...atrophy-with-lower-extremity-predominance - Genetics
  3. Myotonic dystrophy 
    ... muscles close to the center of the body (proximal muscles), such as the those of the neck, ... Testing Registry: Myotonic dystrophy type 2 Myotonic dystrophy Proximal myotonic myopathy Steinert myotonic dystrophy National Organization for ...
    https://medlineplus.gov/genetics/condition/myotonic-dystrophy - Genetics
  4. Potocki-Shaffer syndrome 
    ... scientific literature. Potocki-Shaffer syndrome (also known as proximal 11p deletion syndrome) is caused by a deletion ... their family. Chromosome 11p11.2 deletion syndrome P11pDS Proximal 11p deletion syndrome Genetic Testing Registry: Potocki-Shaffer ...
    https://medlineplus.gov/genetics/condition/potocki-shaffer-syndrome - Genetics
  5. NOG gene 
    ... building blocks (amino acids) in the noggin protein.Proximal symphalangism is characterized by fusion at the joints ... SSD). NOGG_HUMAN noggin precursor SYM1 symphalangism 1 (proximal) SYNS1 Tests of NOG PubMed STAPES ANKYLOSIS WITH ...
    https://medlineplus.gov/genetics/gene/nog - Genetics
  6. Hereditary myopathy with early respiratory failure 
    ... severe features of HMERF. Edstrom myopathy HMERF Myopathy, proximal, with early respiratory muscle involvement Genetic Testing Registry: ...
    https://medlineplus.gov/...y-myopathy-with-early-respiratory-failure - Genetics
  7. Hereditary hypophosphatemic rickets 
    Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for ...
    https://medlineplus.gov/.../hereditary-hypophosphatemic-rickets - Genetics
  8. Lowe syndrome 
    Lowe syndrome is a condition that primarily affects the eyes, brain, and kidneys. This disorder occurs almost exclusively in males.Infants with Lowe syndrome ...
    https://medlineplus.gov/genetics/condition/lowe-syndrome - Genetics
  9. PHEX gene 
    The PHEX gene provides instructions for making an enzyme that is active primarily in bones and teeth. Studies suggest that it cuts (cleaves) other proteins ...
    https://medlineplus.gov/genetics/gene/phex - Genetics
  10. FGF23 gene 
    The FGF23 gene provides instructions for making a protein called fibroblast growth factor 23, which is produced in bone cells. This protein is necessary ...
    https://medlineplus.gov/genetics/gene/fgf23 - Genetics
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