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Results 81 - 90 of 181 for Abnormality of limbs
  1. Spinocerebellar ataxia type 2 
    ... develop loss of sensation and weakness in the limbs (peripheral neuropathy), muscle ... known as parkinsonism, which includes unusually slow movement ( ...
    https://medlineplus.gov/.../condition/spinocerebellar-ataxia-type-2 - Genetics
  2. STING-associated vasculopathy with onset in infancy 
    ... a purplish skin discoloration (livedo reticularis) caused by abnormalities in ... to the extremities.In addition to problems affecting the skin, people ...
    https://medlineplus.gov/...ciated-vasculopathy-with-onset-in-infancy - Genetics
  3. KIF7 gene 
    ... parts of the body, including the brain and limbs. At least 20 mutations in the KIF7 gene have been identified in people with acrocallosal syndrome. This rare condition is characterized by certain brain abnormalities, the presence of extra fingers and toes (polydactyly), ...
    https://medlineplus.gov/genetics/gene/kif7 - Genetics
  4. Dandy-Walker malformation 
    ... muscle stiffness and partial paralysis of the lower limbs (spastic paraplegia), and they may also have seizures. While rare, hearing and vision problems can be features of this condition.Less commonly, other brain abnormalities have been reported in people with Dandy-Walker ...
    https://medlineplus.gov/genetics/condition/dandy-walker-malformation - Genetics
  5. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... muscle tensing (dystonia), involuntary writhing movements of the limbs ... brain abnormalities, people with this condition typically have only mild ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  6. Melnick-Needles syndrome 
    ... the roof of the mouth (palate), and skeletal abnormalities involving the ... bowed limbs; underdeveloped, irregular ribs that can cause problems with ...
    https://medlineplus.gov/genetics/condition/melnick-needles-syndrome - Genetics
  7. Kearns-Sayre syndrome 
    ... least one of the following signs or symptoms: abnormalities of the ... in their limbs, deafness, kidney problems, or a deterioration of cognitive ...
    https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome - Genetics
  8. Arts syndrome 
    ... or almost complete loss of hearing caused by abnormalities in the inner ear. ... in the limbs (peripheral neuropathy).Boys with Arts syndrome also usually ...
    https://medlineplus.gov/genetics/condition/arts-syndrome - Genetics
  9. TRIP11 gene 
    ... of bone development is characterized by extremely short limbs, a narrow chest, ... abnormalities, and infants with achondrogenesis usually die before or ...
    https://medlineplus.gov/genetics/gene/trip11 - Genetics
  10. Systemic lupus erythematosus 
    ... sac-like membrane around the heart (pericarditis) and abnormalities of the heart ... neuropathy); seizures; stroke; and difficulty processing, learning, ...
    https://medlineplus.gov/.../condition/systemic-lupus-erythematosus - Genetics
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