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Results 1 - 10 of 520 for Congenital defects
  1. MED13L gene 
    ... or heart abnormalities that are present from birth (congenital heart defects).Some MED13L gene mutations insert or delete regions ... changes of MED13L further delineate its role in congenital heart defects and intellectual disability. Eur J Hum Genet. 2013 ...
    https://medlineplus.gov/genetics/gene/med13l - Genetics
  2. ATP6V0A2 gene 
    ... autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Eur J Hum Genet. 2008 Jan; ...
    https://medlineplus.gov/genetics/gene/atp6v0a2 - Genetics
  3. MYH6 gene 
    ... to cause several additional heart conditions. These include congenital heart defects, particularly atrial-septal defect (ASD), which is a ... MYH6) mutations affecting myofibril formation are associated with congenital heart defects. Hum Mol Genet. 2010 Oct 15;19(20): ...
    https://medlineplus.gov/genetics/gene/myh6 - Genetics
  4. COL2A1 gene 
    ... formation (ossification) in the spine and hips. These abnormalities cause serious health problems, and infants with achondrogenesis ... II collagen, which results in the severe skeletal abnormalities seen in people with this disorder. More About ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  5. NOTCH1 gene 
    ... Notch1 signaling may underlie blood vessel and heart abnormalities in people with Adams-Oliver syndrome. However, while these types of abnormalities are more common in affected individuals with NOTCH1 ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  6. FLNA gene 
    ... Melnick-Needles syndrome (described below). Frontometaphyseal dysplasia involves abnormalities in skeletal development, particularly involving the joints, and ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  7. HNF1B gene 
    ... diabetes, people with RCAD typically also have kidney abnormalities (primarily fluid-filled sacs called cysts). Affected individuals may also have abnormalities of the pancreas, liver, or genital tract; or ...
    https://medlineplus.gov/genetics/gene/hnf1b - Genetics
  8. GJA1 gene 
    ... connexin 43 protein or leads to the bone abnormalities characteristic of craniometaphyseal dysplasia. More About This Health ... or how these changes result in the skin abnormalities characteristic of EKVP. More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/gja1 - Genetics
  9. BEST1 gene 
    ... found in affected individuals. ADVIRC is characterized by abnormalities of the clear gel that fills the eye ( ... blood vessels within the retina (the choroid). These abnormalities can lead to vision impairment.BEST1 gene mutations ...
    https://medlineplus.gov/genetics/gene/best1 - Genetics
  10. FBN1 gene 
    ... active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms ... condition called Marfan syndrome (described below), such as abnormalities of the large blood vessel that distributes blood ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
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