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Results 131 - 140 of 277 for Abnormality of limbs
  1. Limb-Girdle Muscular Dystrophy (LGMD) (Muscular Dystrophy Association)  
    Muscular Dystrophy/Specifics ... Muscular Dystrophy ... Shoulder Injuries and Disorders/Related Issues ... Shoulder Injuries and Disorders ... Muscular Dystrophy Association
    https://www.mda.org/disease/limb-girdle-muscular-dystrophy - External Health Links
  2. Pregnancy and Childbirth with Neuromuscular Disease (Muscular Dystrophy Association) - PDF  
    Neuromuscular Disorders/Women ... Neuromuscular Disorders ... Muscular Dystrophy Association ... PDF
    https://www.mda.org/.../Quest17-3_Pregnancy_Series_revised_0.pdf - External Health Links
  3. Tetra-amelia syndrome 
    ... disorder characterized by the absence of all four limbs. ("Tetra" is the Greek word for "four," and " ... is particularly involved in the formation of the limbs and neurological development. The RSPO2 gene provides instructions ...
    https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome - Genetics
  4. Dopa-responsive dystonia 
    ... is typically involved. Affected individuals may have unusual limb ... called parkinsonism. These abnormalities include unusually slow movement ( ...
    https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia - Genetics
  5. Thanatophoric dysplasia 
    ... a severe skeletal disorder characterized by extremely short limbs and folds of extra (redundant) skin on the ... PubMed Cohen MM Jr. Some chondrodysplasias with short limbs: molecular perspectives. Am J Med Genet. 2002 Oct ...
    https://medlineplus.gov/genetics/condition/thanatophoric-dysplasia - Genetics
  6. Greig cephalopolysyndactyly syndrome 
    ... is a disorder that affects development of the limbs, head, and face. The features of this syndrome ... some cases, the condition results from a chromosomal abnormality—such as a large deletion or rearrangement of ...
    https://medlineplus.gov/.../greig-cephalopolysyndactyly-syndrome - Genetics
  7. Spastic paraplegia type 11 
    ... intellectual disability; exaggerated reflexes (hyperreflexia) of the lower ... however, abnormalities in muscle tone and difficulty walking usually become ...
    https://medlineplus.gov/.../condition/spastic-paraplegia-type-11 - Genetics
  8. OFD1 gene 
    ... parts of the body, including the brain, face, limbs, and kidneys.The OFD1 protein is located at ... syndrome. This disorder is characterized by particular brain abnormalities, weak muscle tone (hypotonia), delayed development, unusual eye ...
    https://medlineplus.gov/genetics/gene/ofd1 - Genetics
  9. Acromicric dysplasia 
    ... a condition characterized by severely short stature, short limbs, stiff joints, and distinctive facial features.Newborns with ... active. These effects likely contribute to the physical abnormalities that occur in acromicric dysplasia, but the mechanisms ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  10. Collagen VI-related dystrophy 
    ... Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy Genetic Testing Registry: Collagen 6- ...
    https://medlineplus.gov/.../condition/collagen-vi-related-myopathy - Genetics
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