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Results 51 - 60 of 272 for Abnormality of the head
  1. AKT3 gene 
    ... the brain, causing an unusually large brain and head size (megalencephaly) and other abnormalities of the brain's structure.Each of the ...
    https://medlineplus.gov/genetics/gene/akt3 - Genetics
  2. PIK3R2 gene 
    ... the brain, causing an unusually large brain and head size (megalencephaly) and other abnormalities of the brain's structure. Some affected individuals ...
    https://medlineplus.gov/genetics/gene/pik3r2 - Genetics
  3. NSDHL gene 
    ... males. Additional symptoms may include seizures, a small head size (microcephaly), and brain abnormalities. Females who have a variant that causes CK ...
    https://medlineplus.gov/genetics/gene/nsdhl - Genetics
  4. 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. These features often include a ...
    https://medlineplus.gov/genetics/condition/andersen-tawil-syndrome - Genetics
  5. HIVEP2-related intellectual disability 
    ... features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  6. EFTUD2 gene 
    ... microcephaly (MFDM). 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
  7. Jacobsen syndrome 
    ... lower jaw. Affected individuals often have a large head size (macrocephaly) and a skull abnormality called trigonocephaly, which gives the forehead a pointed ...
    https://medlineplus.gov/genetics/condition/jacobsen-syndrome - Genetics
  8. CCND2 gene 
    ... the brain, causing an unusually large brain and head size (megalencephaly) and a brain abnormality called bilateral perisylvian polymicrogyria (BPP). Some affected individuals ...
    https://medlineplus.gov/genetics/gene/ccnd2 - Genetics
  9. Megalencephalic leukoencephalopathy with subcortical cysts 
    ... to an increase in the size of the head (macrocephaly). Affected people also have leukoencephalopathy, an abnormality of the brain's white matter. White matter ...
    https://medlineplus.gov/...eukoencephalopathy-with-subcortical-cysts - Genetics
  10. CHARGE syndrome 
    ... difficulty breathing. Affected individuals frequently have cranial nerve abnormalities. The cranial nerves emerge directly from the brain and extend to various areas of the head and neck, controlling muscle movement and transmitting sensory ...
    https://medlineplus.gov/genetics/condition/charge-syndrome - Genetics
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