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Results 1 - 10 of 17 for Congenital deformities of limbs
  1. FKRP gene 
    ... This Health Condition MedlinePlus Genetics provides ... weakness, brain abnormalities, and intellectual disability but usually does not affect ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  2. DOK7 gene 
    ... signaling between nerve and muscle cells. These signaling abnormalities lead to ... hips, and limbs, known as limb-girdle muscle weakness. More About ...
    https://medlineplus.gov/genetics/gene/dok7 - Genetics
  3. FKTN gene 
    ... This Health Condition MedlinePlus Genetics provides ... muscles. The eye and brain abnormalities seen in those with Walker-Warburg syndrome are ...
    https://medlineplus.gov/genetics/gene/fktn - Genetics
  4. LBR gene 
    ... Noort G, Waterham HR, Hall CM, Hennekam RC. Congenital abnormalities reported in Pelger-Huet homozygosity as compared to ...
    https://medlineplus.gov/genetics/gene/lbr - Genetics
  5. NOTCH1 gene 
    ... of Notch1 function leads to the scalp and limb abnormalities characteristic of the condition. Researchers suggest these features ... Condition NOTCH1 gene mutations are involved in ... have one or more specific heart abnormalities that affect the flow of blood into, out ...
    https://medlineplus.gov/genetics/gene/notch1 - Genetics
  6. POMT1 gene 
    ... Pegoraro E. Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy. Eur J Hum Genet. 2012 ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  7. CRPPA gene 
    ... ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt ...
    https://medlineplus.gov/genetics/gene/crppa - Genetics
  8. POMT2 gene 
    ... N, Guicheney P. POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation. Eur J Med ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  9. TTN gene 
    ... may have low muscle tone (hypotonia) or joint deformities that limit their ability to move (contractures). Babies and children with congenital titinopathy can have muscle weakness in the neck, ...
    https://medlineplus.gov/genetics/gene/ttn - Genetics
  10. COL6A3 gene 
    The COL6A3 gene provides instructions for making one component of type VI collagen, which is a flexible protein found in the space that surrounds cells. ...
    https://medlineplus.gov/genetics/gene/col6a3 - Genetics
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