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spastic paraplegia, intellectual disability, nystagmus, and obesity;

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Uniprot Description An autosomal dominant syndrome characterized by rapid growth in infancy, obesity, global developmental delay, intellectual disability, spastic paraplegia, ocular defects, and dysmorphic facial features.
Mondo Term and Equivalent IDs
MONDO:0015007:  spastic paraplegia, intellectual disability, nystagmus, and obesity;
Orphanet:521390: 
UMLS:C4284592: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found