You are using an outdated browser. Please upgrade your browser to improve your experience.
Lopes-Maciel-Rodan syndrome
Disease Summary
Associated Targets (1)
Tchem
1
Uniprot Description 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:617435
UMLS:C4479491
MONDO:0054573
High level summary of knowledge for a disease, including descriptions and datasource references.