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ENMacrocephaly/autism Syndrome (MCEPHAS)
Alias:
Macrocephaly-Autism Syndrome
Macrocephaly-Intellectual Disability-Autism Syndrome
Macrocephaly Autism Syndrome
Mcephas
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Macrocephaly/autism Syndrome, also known as macrocephaly-autism syndrome, is related to hemimegalencephaly and megalencephaly. An important gene associated with Macrocephaly/autism Syndrome is PTEN (Phosphatase And Tensin Homolog), and among its related pathways/superpathways are Signal Transduction and Metabolism. Affiliated tissues include b cells and thyroid, and related phenotypes are macrocephaly and autistic behavior
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MALACARDS
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