Monocarboxylate transporter 8 deficiency
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A rare, x-linked recessive inherited syndrome caused by mutations in the slc16a2 (mct8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.
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Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.Contributors: Prab R. Tumpati, MD