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4,155 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. GNB1 Encephalopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554743
    ... common findings include dystonia, reduced vision, behavior issues, growth delay, gastrointestinal (GI) problems, genitourinary (GU) abnormalities in males, and cutaneous mastocytosis. Diagnosis/testing. The diagnosis of GNB1 encephalopathy ( GNB1 -E) ...
  3. Alagille Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1273
    ... posterior embryotoxon), and characteristic facial features. Renal abnormalities, growth failure, behavioral differences, splenomegaly, retinal changes, and vascular abnormalities may also occur. Diagnosis/testing. The diagnosis of ALGS is established in ...
  4. ARID1B-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK541502
    ... individuals with ARID1B -RD include feeding difficulties, slow growth, ophthalmologic abnormalities, hearing impairment, seizures, attention-deficit/hyperactivity disorder, and autistic features. Diagnosis/testing. The diagnosis of ARID1B- RD is established ...
  5. 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 ...
  6. Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1526
    ... variable other contiguous genes. Clinical features include poor growth, developmental brain abnormalities, seizures, and intractable infections [ Bartsch et al 2005 ]. Differential Diagnosis For individuals with the distinctive facial features and ...
  7. 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 ...
  8. Silver-Russell Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1324
    ... Chromosomal Abnormalities Associated with IUGR and Poor Postnatal Growth to Consider in the Differential Diagnosis of Silver-Russell Syndrome View in own window Chromosomal Abnormality Characteristic Features of Disorder Overlapping w/SRS (in ...
  9. 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 ...
  10. 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) ...
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