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Results 21 - 30 of 217 for Abnormality of the face
  1. TXNL4A gene 
    ... have been shown to cause other conditions with abnormalities affecting the head and face (craniofacial malformations), so craniofacial development is thought to ...
    https://medlineplus.gov/genetics/gene/txnl4a - Genetics
  2. Craniofacial-deafness-hand syndrome 
    ... hand syndrome result from a variety of developmental abnormalities involving the skull (cranium) and face. Affected individuals often have underdeveloped or absent nasal ...
    https://medlineplus.gov/.../craniofacial-deafness-hand-syndrome - Genetics
  3. Knobloch syndrome 
    ... detailed tasks such as reading, driving, and recognizing faces. Due to abnormalities in the vitreous, retina, and macula, people with ...
    https://medlineplus.gov/genetics/condition/knobloch-syndrome - Genetics
  4. Cytochrome P450 oxidoreductase deficiency 
    ... infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones ( ...
    https://medlineplus.gov/...cytochrome-p450-oxidoreductase-deficiency - Genetics
  5. CHILD syndrome 
    ... and creases and usually does not affect the face. The skin abnormalities are typically present at birth or appear within ...
    https://medlineplus.gov/genetics/condition/child-syndrome - Genetics
  6. Andersen-Tawil syndrome 
    ... syncope), and even more rarely, sudden death.Physical abnormalities associated with Andersen-Tawil syndrome typically affect the face, other parts of the head, and the limbs. ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  7. SLC25A24 gene 
    ... found only in females, is characterized by skull abnormalities that affect the shape of the head and face, a lack of fatty tissue under the skin ( ...
    https://medlineplus.gov/genetics/gene/slc25a24 - Genetics
  8. EFTUD2 gene 
    ... This disorder causes malformations of the head and face, intellectual disability, and abnormalities affecting other areas of the body. These abnormalities ...
    https://medlineplus.gov/genetics/gene/eftud2 - Genetics
  9. Saethre-Chotzen syndrome 
    ... development and 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
  10. Chromosome 7 
    ... role in the early development of the head, face, arms, and legs.The chromosome abnormalities responsible for Saethre-Chotzen syndrome include translocations of ...
    https://medlineplus.gov/genetics/chromosome/7 - Genetics
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