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"MECP2-related" disorder
- MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size ( ...
- Genetic Brain Disorders (National Library of Medicine)A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form of a gene. A mutation is a change in a gene. ...
- ... least 19 mutations in the MECP2 gene cause MECP2-related severe neonatal encephalopathy. This condition almost exclusively affects males and is characterized by small head size (microcephaly), movement disorders, breathing problems, and seizures. Many of the MECP2 ...
- ... of disorders with the same genetic cause. Other disorders on the spectrum include PPM-X syndrome, MECP2 duplication syndrome, and MECP2-related severe neonatal encephalopathy. These other conditions can affect ...