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glycosylphosphatidylinositol biosynthesis defect 15

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria.
Mondo Term and Equivalent IDs
MONDO:0060627:  glycosylphosphatidylinositol biosynthesis defect 15
Orphanet:529665: 
UMLS:C4540520: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found