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2,916 results
  1. Coffin-Siris Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK131811
    ... systems. Other findings commonly include feeding difficulties, slow growth, ophthalmologic abnormalities, and hearing impairment. Diagnosis/testing. Before the molecular basis was known, the ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... produces no hormones. Panhypopituitarism is associated with slow growth, low blood glucose (hypoglycemia), genital abnormalities, and problems with sexual development.</html:p><html:p >The signs and symptoms of septo-optic dysplasia can vary significantly. Some ...
  3. Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK100664
    ... due to impaired balance from inner ear (vestibular) abnormalities. Growth, physical development, and cognition are normal. Diagnosis/testing. The diagnosis of LAMM syndrome is established ...
  4. Congenital contractural arachnodactyly: MedlinePlus Genetics 
    https://medlineplus.gov/.../congenital-contractural-arachnodactyly
    ... structure of connective tissue and disrupts regulation of growth factor activity. The resulting abnormalities of connective tissue underlie the signs and symptoms of congenital contractural arachnodactyly. Learn more about the ...
  5. Hypermobile Ehlers-Danlos Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1279
    ... mild), a specific cognitive profile, unique personality characteristics, growth abnormalities, and endocrine abnormalities (hypercalcemia, hypercalciuria, hypothyroidism, and early puberty). The mainstay for diagnosis is detection of the contiguous gene deletion of ...
  6. COL11A2 gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/col11a2
    ... with Weissenbacher-Zweymüller syndrome, a disorder of bone growth characterized by skeletal abnormalities, hearing loss, and distinctive facial features. These signs and symptoms are similar to those of OSMED (described above) ...
  7. NLM Digital Collections - The great unmarried 
    Publication: New York : Frederick A. Stokes, [1915?]
    resource.nlm.nih.gov/02710020R
    ... perversions, and the spread of venereal diseases. These growths are symptoms of widespread abnormality, and evidence of ever-increasing sexual promiscuity. From ...
  8. Septo-optic dysplasia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/septo-optic-dysplasia
    ... produces no hormones. Panhypopituitarism is associated with slow growth, low blood glucose (hypoglycemia), genital abnormalities, and problems with sexual development. The signs and symptoms of septo-optic dysplasia can vary significantly. Some ...
  9. SGCE Myoclonus-Dystonia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1414
    ... hypotonia, & OCD In others w/dystonia: Notable DD & growth delay, seizures, hypotonia, abnormal MRI Other symptoms may incl genitourinary & gastrointestinal abnormality, vision, hearing, cardiac, & hematologic abnormalities. KCTD17 Myoclonic dystonia ...
  10. IMAGe Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190103
    ... acronym for the major findings of i ntrauterine growth restriction (IUGR), m etaphyseal ... IUGR; Some type of skeletal abnormality (most ...
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