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Congenital Heart Defect v0.511 Sarah Milton Copied Region ISCA-37418-Gain from panel Common deletion and duplication syndromes
Congenital Heart Defect v0.511 ISCA-37418-Gain Sarah Milton Region: ISCA-37418-Gain was added
Region: ISCA-37418-Gain was added to Congenital Heart Defect. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37418-Gain were set to Potocki-Lupski syndrome, MIM# 610883; intellectual disability; hypotonia; congenital anomalies