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hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive form of syndromic mental retardation. Affected individuals show severe intellectual disability, hypohidrosis, dental enamel hypoplasia, and hyperkeratosis of the palms and soles. Some may develop mild microcephaly.
Mondo Term and Equivalent IDs
MONDO:0014131:  hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Orphanet:363523: 
UMLS:C3809160: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found