" /> Lopes-Maciel-Rodan Syndrome - CISMeF





Preferred Label : Lopes-Maciel-Rodan Syndrome;

NCIt synonyms : LOMARS;

NCIt definition : An autosomal recessive neurodevelopmental condition caused by mutation(s) in the HTT gene, encoding Huntingtin. It is characterized by delayed psychomotor development, severe intellectual disability, and both cerebral and cerebellar atrophy.;

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30/07/2025


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