Lopes-Maciel-Rodan Syndrome

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.;

Details

Origin ID

C210872;

concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HTT Gene [NCIt concept]

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