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Results 11 - 20 of 127 for Abnormality of limbs
  1. Beta-mannosidosis 
    ... hypotonia), and reduced sensation or other nervous system abnormalities in the extremities (peripheral neuropathy). They may also exhibit distinctive facial ...
    https://medlineplus.gov/genetics/condition/beta-mannosidosis - Genetics
  2. Triple A syndrome 
    ... commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is ...
    https://medlineplus.gov/genetics/condition/triple-a-syndrome - Genetics
  3. Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 
    ... thrive).Additional features of AEC syndrome can include limb abnormalities, most commonly fused fingers and toes (syndactyly). Less ...
    https://medlineplus.gov/...odermal-defects-cleft-lip-palate-syndrome - Genetics
  4. Atelosteogenesis type 1 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-1 - Genetics
  5. Atelosteogenesis type 3 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3 - Genetics
  6. Saethre-Chotzen syndrome 
    ... maturation of cells in the skull, face, and limbs. These abnormalities underlie the signs and symptoms of Saethre-Chotzen ...
    https://medlineplus.gov/genetics/condition/saethre-chotzen-syndrome - Genetics
  7. Boomerang dysplasia 
    ... some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms ...
    https://medlineplus.gov/genetics/condition/boomerang-dysplasia - Genetics
  8. NGLY1-congenital disorder of deglycosylation 
    ... muscle tone (hypotonia). Many affected individuals have movement abnormalities, such as uncontrolled movements of the limbs (choreoathetosis), and some develop seizures that are difficult ...
    https://medlineplus.gov/...y1-congenital-disorder-of-deglycosylation - Genetics
  9. Ataxia with oculomotor apraxia 
    ... nearly all people with type 1 develop nerve abnormalities (neuropathy). Neuropathy impairs reflexes and leads to limb weakness and an inability to sense vibrations. Many ...
    https://medlineplus.gov/.../condition/ataxia-with-oculomotor-apraxia - Genetics
  10. Spondyloenchondrodysplasia with immune dysregulation 
    ... individuals with SPENCDI include flattened spinal bones (platyspondyly), abnormalities at the ends of long bones in the limbs (metaphyseal dysplasia), and areas of damage (lesions) on ...
    https://medlineplus.gov/...hondrodysplasia-with-immune-dysregulation - Genetics
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