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Results 21 - 30 of 181 for Abnormality of limbs
  1. 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
  2. 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
  3. 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
  4. ESCO2 gene 
    ... to cause Roberts syndrome, which is characterized by limb and facial abnormalities and slow growth before and after birth. These ...
    https://medlineplus.gov/genetics/gene/esco2 - Genetics
  5. 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
  6. 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
  7. Capillary malformation-arteriovenous malformation syndrome 
    ... called Parkes Weber syndrome. In addition to vascular abnormalities, Parkes Weber syndrome usually involves overgrowth of one limb. CM-AVM and some cases of Parkes Weber ...
    https://medlineplus.gov/...ation-arteriovenous-malformation-syndrome - Genetics
  8. LORICRIN gene 
    ... loricrin keratoderma. This disorder is characterized by skin abnormalities including widespread dry, scaly skin (ichthyosis), especially on the limbs. The mutations that cause the variant form of ...
    https://medlineplus.gov/genetics/gene/loricrin - Genetics
  9. TUBB4A-related leukodystrophy 
    ... addition, individuals with H-ABC have other movement abnormalities, such as involuntary muscle contractions (dystonia), uncontrolled movements of the limbs (choreoathetosis), muscle stiffness (rigidity), and difficulty coordinating movements ( ...
    https://medlineplus.gov/.../condition/tubb4a-related-leukodystrophy - Genetics
  10. Adams-Oliver syndrome 
    ... present at birth. The primary features are an abnormality in skin development (called aplasia cutis congenita) and malformations of the limbs. A variety of other features can occur in ...
    https://medlineplus.gov/genetics/condition/adams-oliver-syndrome - Genetics
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