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Results 51 - 60 of 127 for Abnormality of limbs
  1. Laron syndrome 
    ... hair that is thin and fragile, and dental abnormalities. Many affected ... individuals have short limbs compared to the size of their torso, as ...
    https://medlineplus.gov/genetics/condition/laron-syndrome - Genetics
  2. Miller syndrome 
    ... dihydroorotate dehydrogenase appears to be active in the limb buds during the early stages of development, it is not clear how variants in the DHODH gene cause the specific bone abnormalities seen in people with Miller syndrome. DHODH This ...
    https://medlineplus.gov/genetics/condition/miller-syndrome - Genetics
  3. L1 syndrome 
    ... spasticity) and the development of paralysis of the limbs (paraplegia). Affected individuals also have mild to moderate intellectual disability. People with spastic paraplegia type 1 do not usually have major abnormalities in structures of the brain.X-linked complicated ...
    https://medlineplus.gov/genetics/condition/l1-syndrome - Genetics
  4. 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
  5. 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
  6. 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
  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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