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Lopes-Maciel-Rodan syndrome

Disease Summary
Associated Targets (1)


Explore Associated Targets
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.
Mondo Term and Equivalent IDs
MONDO:0054573:  Lopes-Maciel-Rodan syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found