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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010283/OMIM:300260","MONDO:0010283/ORPHA:1762","MONDO:0017404/ORPHA:293939"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

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delay","primary":false},{"hpoId":"HP:0032169","label":"Severe infection","primary":false},{"hpoId":"HP:0010864","label":"Severe intellectual disability","primary":false},{"hpoId":"HP:0001773","label":"Short foot","primary":false},{"hpoId":"HP:0000200","label":"Short lingual frenulum","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0002360","label":"Sleep disturbance","primary":false},{"hpoId":"HP:0002133","label":"Status epilepticus","primary":false},{"hpoId":"HP:0012172","label":"Stereotypical body rocking","primary":false},{"hpoId":"HP:0010804","label":"Tented upper lip vermilion","primary":false},{"hpoId":"HP:0000179","label":"Thick lower lip vermilion","primary":false},{"hpoId":"HP:0030051","label":"Tip-toe gait","primary":false},{"hpoId":"HP:0032792","label":"Tonic seizure","primary":false},{"hpoId":"HP:0012724","label":"Upper eyelid edema","primary":false},{"hpoId":"HP:0000582","label":"Upslanted palpebral 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

MECP2 duplication syndrome is caused by a genetic change in which there is an extra copy of the MECP2 gene in each cell. This extra copy of the MECP2 gene is caused by a duplication of genetic material on the long (q) arm of the X chromosome. The size of the duplication varies from 100,000 to a few million DNA building blocks (base pairs). The MECP2 gene is always included in this duplication, and other genes may also be involved, depending on the size of the duplicated segment. It is unclear whether extra copies of these other genes affect the severity of the condition.

The MECP2 gene provides instructions for making a protein called MeCP2 that is critical for normal brain function. Researchers believe that this protein has several functions, including regulating other genes in the brain by controlling when they are able to participate in protein production. An extra copy of the MECP2 gene leads to the production of excess MeCP2 protein and an increase in protein function. The resulting changes in gene regulation and protein production in the brain lead to abnormal nerve cell (neuronal) function. These neuronal changes disrupt normal brain activity, causing the signs and symptoms of MECP2 duplication syndrome.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes MECP2 duplication syndrome?"},{"bodyHtml":"

Source: MedlinePlus Genetics

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