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Intellectual disability syndromic and non-syndromic v1.480 Sarah Milton Copied Region ISCA-37393-Gain from panel Common deletion and duplication syndromes
Intellectual disability syndromic and non-syndromic v1.480 ISCA-37393-Gain Sarah Milton Region: ISCA-37393-Gain was added
Region: ISCA-37393-Gain was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review Green,Expert Review
SV/CNV tags were added to Region: ISCA-37393-Gain.
Mode of inheritance for Region: ISCA-37393-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for Region: ISCA-37393-Gain were set to Cat eye syndrome, MIM# 115470; coloboma; anal atresia; heart and renal malformations