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Roberts-SC phocomelia syndrome

Disease Summary
Associated Targets (4)


Explore Associated Targets
Mondo Description A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities.
Mondo Term and Equivalent IDs
MONDO:0100253:  Roberts-SC phocomelia syndrome
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found