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skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome

Disease Summary
Associated Targets (1)
Tclin

1


Explore Associated Targets
Uniprot Description A syndrome characterized by somatic overgrowth, distinctive facial features, hyperelastic and fragile skin, and progressive neurologic deterioration with white matter lesions on brain imaging.
Mondo Term and Equivalent IDs
MONDO:0014704:  skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome
Orphanet:477831: 
UMLS:C4225270: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found