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Lopes-Maciel-Rodan syndrome - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:Lopes-Maciel-Rodan syndrome
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Accession:EFO:0009904 term browser browse the term
Definition:An autosomal recessive neurodevelopmental disorder characterized by developmental regression in infancy, delayed psychomotor development, severe intellectual disability, and cerebral and cerebellar atrophy. Additional features include swallowing problems, dystonia, bradykinesia, and continuous manual stereotypies without chorea. Some patients manifest seizures.
Synonyms:exact_synonym: http://identifiers.org/medgen/1379711;   http://linkedlifedata.com/resource/umls/id/C4479491;   https://omim.org/entry/617435
 related_synonym: LOMARS
 xref: DOID:9000409;   MEDGEN:1379711;   MIM:617435;   MONDO:0054573;   UMLS:C4479491;   https://www.uniprot.org/diseases/DI-04988

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