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Results 21 - 30 of 46 for "Microcephaly," "seizures," developmental delay
  1. 16p11.2 duplication 
    ... include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language. Affected individuals also ...
    https://medlineplus.gov/genetics/condition/16p112-duplication - Genetics
  2. Chromosome 5 
    ... and impair the function of neurons, leading to developmental delay, hypotonia, seizures, and other neurological problems in people with 5q31. ... to result in more severe intellectual disability and developmental delays ... (microcephaly), and distinctive facial features. More About This Health ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  3. Chromosome 14 
    ... have weak muscle tone (hypotonia), a small head (microcephaly), frequent respiratory infections, developmental delay, and learning difficulties.Other changes in the number ...
    https://medlineplus.gov/genetics/chromosome/14 - Genetics
  4. GLUT1 deficiency syndrome 
    ... with the non-epileptic form do not have seizures, but they may still have developmental delay and intellectual disability. Most have movement problems such ...
    https://medlineplus.gov/genetics/condition/glut1-deficiency-syndrome - Genetics
  5. Vici syndrome 
    ... time, resulting in an unusually small head size (microcephaly).These brain problems contribute to profound developmental delays in individuals with Vici syndrome. Affected infants have ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics
  6. Aicardi syndrome 
    ... the brain. Some have an unusually small head (microcephaly). Most affected individuals have moderate to severe developmental delay and intellectual disability, although some people with this ...
    https://medlineplus.gov/genetics/condition/aicardi-syndrome - Genetics
  7. DOORS syndrome 
    ... absent nails (onychodystrophy); short fingers and toes (osteodystrophy); developmental delay and intellectual disability (previously called mental retardation); and seizures. Some people with DOORS syndrome do not have ...
    https://medlineplus.gov/genetics/condition/doors-syndrome - Genetics
  8. Adenylosuccinate lyase deficiency 
    ... months of life. Affected babies have severe psychomotor delay, weak muscle tone (hypotonia), and microcephaly. Many affected infants develop recurrent seizures that are difficult to treat, and some exhibit ...
    https://medlineplus.gov/.../adenylosuccinate-lyase-deficiency - Genetics
  9. Isolated sulfite oxidase deficiency 
    ... form of the disorder may not have the seizures and ectopia lentis that usually occur in the classic form. They have developmental delay and may lose skills that they had already ...
    https://medlineplus.gov/.../isolated-sulfite-oxidase-deficiency - Genetics
  10. Asparagine synthetase deficiency 
    ... this condition have an unusually small head size (microcephaly) that worsens over time due to loss (atrophy) of brain tissue. They also have severe developmental delay that affects both mental and motor skills (psychomotor ...
    https://medlineplus.gov/.../asparagine-synthetase-deficiency - Genetics
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