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Results 71 - 80 of 92 for "Heart," malformation of
  1. Frontometaphyseal dysplasia 
    ... general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), ... encoding the cytoskeletal protein filamin A cause diverse malformations in humans. Nat Genet. 2003 Apr;33(4): ...
    https://medlineplus.gov/.../condition/frontometaphyseal-dysplasia - Genetics
  2. Baraitser-Winter syndrome 
    ... undescribed syndrome: shallow orbits, ptosis, coloboma, trigonocephaly, gyral malformations, and mental and growth retardation. Am J Med ... WB, Andria G, Winter RM. Characterization of brain malformations in the Baraitser-Winter syndrome and review of ...
    https://medlineplus.gov/genetics/condition/baraitser-winter-syndrome - Genetics
  3. NSDHL gene 
    ... NBK51754/ Citation on PubMed Porter FD, Herman GE. Malformation syndromes caused by disorders of cholesterol synthesis. J ... Free article on PubMed Central Porter FD. Human malformation syndromes due to inborn errors of cholesterol synthesis. ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  4. Chromosome 16 
    ... of FOXF1 cause alveolar capillary dysplasia and other malformations. Am J Hum Genet. 2009 Jun;84(6): ...
    https://medlineplus.gov/genetics/chromosome/16 - Genetics
  5. SMAD4 gene 
    ... vessels called capillaries. These abnormalities are called arteriovenous malformations. When they occur in vessels near the surface ... large blood vessel that distributes blood from the heart to the rest of the body. Aortic dilation ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  6. WT1 gene 
    ... coelomic mesothelial origin of the cardiac and diaphragmatic malformations. Am J Med Genet A. 2007 Oct 1; ...
    https://medlineplus.gov/genetics/gene/wt1 - Genetics
  7. Congenital diaphragmatic hernia 
    ... means that affected individuals have no other major malformations.More than 80 percent of individuals with congenital ...
    https://medlineplus.gov/.../congenital-diaphragmatic-hernia - Genetics
  8. Chromosome 20 
    ... 20q13 --> 20qter in a girl with multiple congenital malformations and a recombinant chromosome 20 inherited from a ...
    https://medlineplus.gov/genetics/chromosome/20 - Genetics
  9. FOXL2 gene 
    ... in the ovaries. These changes result in eyelid malformations and abnormally accelerated maturation of granulosa cells in ... include an unusually small head (microcephaly), intellectual disability, heart defects, and growth delay. More About This Health ...
    https://medlineplus.gov/genetics/gene/foxl2 - Genetics
  10. Mayer-Rokitansky-Küster-Hauser syndrome 
    ... Beckmann MW, Oppelt P. Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome ...
    https://medlineplus.gov/.../mayer-rokitansky-kuster-hauser-syndrome - Genetics
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