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41 results
  1. Bleeding disorders 
    https://medlineplus.gov/ency/article/001304.htm
    ... Specific bleeding disorders include: Acquired platelet function defects Congenital platelet function defects Disseminated intravascular coagulation (DIC) Prothrombin deficiency Factor V deficiency Factor VII ...
  2. Noonan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1124
    ... pectus carinatum and inferior pectus excavatum, cryptorchidism, varied coagulation defects, lymphatic dysplasias, and ocular abnormalities. Although birth length is usually normal, final adult height approaches the lower limit of normal. Congenital heart disease occurs in 50%-80% of individuals. ...
  3. Bleeding Disorders 
    https://medlineplus.gov/bleedingdisorders.html
    With bleeding disorders, there is a problem with blood clotting. It may be hard to stop the bleeding. Read about bleeding disorders and treatments. ... Normally, if ...
  4. Prothrombin thrombophilia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/prothrombin-thrombophilia
    ... Information & Resources Genetic Testing Information Genetic Testing Registry: Congenital ... F2 Scientific Articles on PubMed PubMed ...
  5. Costello Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1507
    ... Short stature DD of variable degree Mild ID Congenital heart defects: ... coagulation defects & lymphatic dysplasia Birth length usually normal Final ...
  6. F10 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/f10
    ... PubMed Catalog of Genes and Diseases from OMIM ... R, Allemand E. Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in ...
  7. Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1332
    ... rapidly progressive microcephaly, hypotonia, early-onset seizures, severe coagulation defects, immunodeficiency, nephrotic syndrome, liver dysfunction, and cardiomyopathy [ Schwarz ...
  8. Congenital platelet function defects 
    https://medlineplus.gov/ency/article/000582.htm
    ... Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people ...
  9. PMM2-CDG (CDG-Ia) - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1110
    ... phenotype termed the "neurologic form" without pericardial effusions, coagulation defects, or nutritional disturbances. Some individuals are able to ... CDG-Ia ) is the most common form of congenital disorders of glycosylation . The prevalence could be as ...
  10. NGLY1-Related Congenital Disorder of Deglycosylation - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK481554
    ... GeneReviews Advanced Search Help < Prev Next > NGLY1 -Related Congenital Disorder of Deglycosylation Synonyms: NGLY1-CDDG, NGLY1 Deficiency, ... minutes Summary Clinical characteristics. Individuals with NGLY1 -related congenital disorder of deglycosylation (NGLY1-CDDG) typically display a ...
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