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tall stature-intellectual disability-renal anomalies syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Uniprot Description A rare autosomal recessive syndrome characterized by generalized overgrowth, developmental delay, learning disabilities, and variable congenital abnormalities including congenital heart defects, renal dysplasia, and skeletal defects.
Mondo Term and Equivalent IDs
MONDO:0014918:  tall stature-intellectual disability-renal anomalies syndrome
Orphanet:500095: 
UMLS:C4310715: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found