Skip to main content
U.S. flag

An official website of the United States government

Official websites use .gov
A .gov website belongs to an official government organization in the United States.

Secure .gov websites use HTTPS
A lock ( ) or https:// means you’ve safely connected to the .gov website. Share sensitive information only on official, secure websites.

Search help

6,505 results

  1. CACNA1C-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1403
    ... a single individual) [ Gillis et al 2012 ] Life Span Among the CACNA1C -related disorders, the typical Timothy ... syndrome phenotypes may be compatible with normal life span if properly diagnosed and treated. Genotype-Phenotype Correlations ...
  2. Udd Distal Myopathy – Tibial Muscular Dystrophy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1323
    ... the second allele [ Evilä et al 2014 ]. Life span is not reduced. Genotype-Phenotype Correlations Almost all ... alternative splicing, in skeletal and cardiac muscle. Titin spans more than one half the length of a ...
  3. ANO5 Muscle Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK114459
    ... myalgia or mild muscle weakness. Progression and life span . Disease progression is slow in both the LGMD ... individuals remain ambulatory without assistance for decades. Life span appears to be normal. Genotype-Phenotype Correlations No ...
  4. Pyruvate Carboxylase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK6852
    ... speech, depending on frequency of metabolic acidosis Life span Early infant or early childhood death Death in ... old girl [ Almomen et al 2018 ]. Prognosis. Life span is unknown, but survival into adulthood has been ...
  5. Marinesco-Sjögren Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1192
    ... other clinical manifestations [ Mahjneh et al 2006 ]. Life span. Although many adults have severe disabilities, the life span associated with MSS appears to be near normal. ...
  6. Prader-Willi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1330
    ... major causes of morbidity and mortality (see Life span at the end of this section). Early diagnosis ... and enamel hypoplasia are also more common. Life span. The mortality rate in individuals with PWS is ...
  7. Dystrophinopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1119
    ... compression fractures, many of which are asymptomatic. Life span. Despite improvement of survival, few affected individuals survive ... It has been estimated that the gene itself spans a genetic distance of 12 centimorgans [ Abbs et ...
  8. VLDLR Cerebellar Hypoplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1874
    ... a feature in a few affected individuals. Life span. There has been no formal study of life span in this disorder, but experience from the Hutterite population suggests that life span is not significantly reduced. Genotype-Phenotype Correlations No ...
  9. DCX-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1185
    ... decline postnatally and result in postnatal microcephaly. Life span. Individuals with severe classic lissencephaly may survive into adulthood. However, life span overall is shortened due to complications either directly ...
  10. RxNorm September 2017 Release Includes Additional Medi-Span Data. NLM Technical Bulletin. 2017 Sep–Oct 
    https://www.nlm.nih.gov/.../so17_umls_rxnorm_release_september.html
    ... Next RxNorm September 2017 Release Includes Additional Medi-Span Data RxNorm September 2017 Release Includes Additional Medi-Span Data. NLM Tech Bull. 2017 Sep-Oct;(418): ...
first · previous · 1 · 2 · 3 · 4 · 5 · 6 · 7 · 8 · 9 · 10 · next · last