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1,313 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. Search Results; Study Design, Arm Details, Baselines, and Quality - Schedule of Visits and Televisits for Routine ... 
    https://www.ncbi.nlm.nih.gov/books/NBK582025
    ... visit, and who were considered low−risk antepartum diagnosis of fetal abnormalities, placenta previa, intrauterine growth restriction, pregnancy−induced hypertension, gestational diabetes, or premature ...
  10. 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 ...
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