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leukoencephalopathy-palmoplantar keratoderma syndrome

Disease Summary
Associated Targets ()

Mondo Description Leukoencephalopathy-palmoplantar keratoderma syndrome is a rare, genetic epidermal disease characterized by early childhood-onset of punctate palmoplantar keratoderma in association with adult-onset leukoencephalopathy manifested by progressive tetrapyramidal syndrome and cognitive deterioration.
Mondo Term and Equivalent IDs
MONDO:0016545:  leukoencephalopathy-palmoplantar keratoderma syndrome
GARD:0003232: 
Orphanet:2386: 
UMLS:CN201627: