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Results 111 - 120 of 277 for Abnormality of limbs
  1. POMT2 gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone ... dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/pomt2 - Genetics
  2. POMT1 gene 
    ... this problem with neuronal migration causes a brain abnormality called cobblestone ... dystrophy More About This Health Condition ...
    https://medlineplus.gov/genetics/gene/pomt1 - Genetics
  3. Char syndrome 
    ... affects the development of the face, heart, and limbs. It is characterized by a combination of three major features: a distinctive facial appearance, a heart defect called patent ductus arteriosus, and hand abnormalities.Most people with Char syndrome have a characteristic ...
    https://medlineplus.gov/genetics/condition/char-syndrome - Genetics
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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
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