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4,295 results
  1. Williams Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1249
    ... joint limitation or laxity, and soft, lax skin. Growth abnormalities include prenatal growth deficiency, postnatal poor weight gain, ... cognitive profile, unique personality characteristics, connective tissue ... manifestations, and distinctive facies. Additional manifestations ...
  2. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... in own window Manifestation/Concern Treatment Considerations/Other Growth abnormalities Early referral to endocrinologist & consideration of GH therapy ...
  3. TET3-Related Beck-Fahrner Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK591837
    ... of individuals exhibit typical growth and half exhibit growth abnormalities, with overgrowth being more common than undergrowth and ... behavioral, and psychiatric features, with some individuals exhibiting growth abnormalities as well [ Beck et al 2020 , Levy et ...
  4. POLR3-Related Leukodystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK99167
    ... Locus Links Similar articles in PubMed Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, ... POLR1C. [J Clin Endocrinol Metab. 2021] Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, ...
  5. Resources for Genetics Professionals — Mosaicism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK585455
    ... disorders? Clinical features of mosaic disorders can include: Growth abnormalities (e.g., asymmetric or focal growth abnormalities, segmental overgrowth, generalized overgrowth) Brain overgrowth and cortical ...
  6. Hereditary Multiple Osteochondromas - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1235
    ... frequently reported, there is a theoretic risk of growth abnormality resulting from resection of periphyseal osteochondromas; angular misalignment ... it is asooc w/a theoretic risk of growth abnormality. Painful osteochondromas w/o bony deformity Simple surgical ...
  7. SLC6A1-Related Neurodevelopmental Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK589173
    ... spectrum disorder also have restrictive eating habits. Other Growth. Abnormalities of growth (short stature) or head circumference are rare [ Mermer ...
  8. 15q13.3 Recurrent Deletion - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK50780
    ... to recurrent ear infections in infancy may occur. Growth. Abnormalities in growth may occur (both undergrowth and overgrowth), although most ...
  9. RPS6KA3-Related Intellectual Disability - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1346
    ... mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, & endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, & early puberty). Feeding ...
  10. 7q11.23 Duplication Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK327268
    ... mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early ...
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