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Results 41 - 50 of 52 for Abnormality of limbs
  1. MYH3 gene 
    ... that abnormal muscle contraction and limited muscle and limb movement during development leads to stiffening of the ... in the contractures and other muscle and skeletal abnormalities associated with Sheldon-Hall syndrome. More About This ...
    https://medlineplus.gov/genetics/gene/myh3 - Genetics
  2. DHCR7 gene 
    ... proteins that control early development of the brain, limbs, genital tract, and other structures. It is also ... It is not completely understood, however, how either abnormality leads to the specific features of Smith-Lemli- ...
    https://medlineplus.gov/genetics/gene/dhcr7 - Genetics
  3. GBA1 gene 
    ... s disease (described above) such as rigidity of limbs, tremors, and impaired balance and coordination.Variants in ...
    https://medlineplus.gov/genetics/gene/gba1 - Genetics
  4. LBR gene 
    ... proteins that control early development of the brain, limbs, genitals, and other structures. It is also an ... 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. NKX2-1 gene 
    ... jerking movements (chorea) of the face, torso, and limbs and other uncontrolled movements; severe breathing difficulty (respiratory ... formation or migration, which may underlie the movement abnormalities characteristic of brain-lung-thyroid syndrome. More About ...
    https://medlineplus.gov/genetics/gene/nkx2-1 - Genetics
  6. FOXC2 gene 
    ... primary valve failure in veins of the lower limb. Circulation. 2007 Apr 10;115(14):1912-20. ...
    https://medlineplus.gov/genetics/gene/foxc2 - Genetics
  7. ALDH18A1 gene 
    ... and the development of paralysis of the lower limbs (paraplegia) caused by breakdown of nerve cells that ...
    https://medlineplus.gov/genetics/gene/aldh18a1 - Genetics
  8. PLP1 gene 
    ... problems, particularly muscle stiffness (spasticity) in the lower limbs that worsens over time. Generally, PLP1 gene mutations ...
    https://medlineplus.gov/genetics/gene/plp1 - Genetics
  9. POGLUT1 gene 
    ... This Health Condition MedlinePlus Genetics provides information about Limb-girdle muscular dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/poglut1 - Genetics
  10. NSDHL gene 
    ... that control the early development of the brain, limbs, genital tract, and other structures. It is also ... seizures, a small head size (microcephaly), and brain abnormalities. Females who have a variant that causes CK ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
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