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Results 1 - 10 of 45 for "Microcephaly," "seizures," developmental delay
  1. Microcephaly, seizures, and developmental delay (MCSZ) is a condition characterized by an abnormally small head size (microcephaly) and neurological problems related ...
  2. ... the PNKP gene have been found to cause microcephaly, seizures, and developmental delay (MCSZ). This condition is characterized by problems with ... Caldecott KW. Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair. ...
  3. ... have a severe form of the disorder, including microcephaly, severe developmental delay, and seizures beginning in infancy. Most often, the parents of ...
  4. ... is characterized by an unusually small head size (microcephaly), severe developmental delay, and recurrent seizures that are difficult to treat (intractable epilepsy). Most ...
  5. ... symptoms, which may include a small head size (microcephaly), severe developmental delays, abnormal movements (dyskinesia), seizures, and encephalopathy (abnormal brain function). These symptoms resemble ...
  6. ... disorder characterized by an abnormally small head size (microcephaly), profound developmental delay and intellectual disability, recurrent seizures (epilepsy), and abnormalities of small blood vessels in ...
  7. ... this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly).The symptoms of SCAD deficiency may be triggered ...
  8. ... glycosylation (COG4-CDG). This condition often leads to developmental delay, intellectual disability, seizures, and an unusually small head size (microcephaly). Mutations in the COG4 gene that cause COG4- ...
  9. ... of persistent seizures, the episodes become less frequent.Seizures can affect growth of the brain and lead to a small head size (microcephaly). The problems with brain development can also cause profound developmental delay and intellectual impairment. Affected babies often lose the ...
  10. ... with Kabuki syndrome may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye ...
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