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| Common deletion and duplication syndromes v0.139 | ISCA-37498-Loss |
Sarah Milton Region: ISCA-37498-Loss was added Region: ISCA-37498-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-37498-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for Region: ISCA-37498-Loss were set to 11q13.2q13.4 deletion syndrome Review for Region: ISCA-37498-Loss was set to GREEN Added comment: Well described recurrent CNV by Clingen with associated ID and dysmorphism. Overlaps 2 HI3 genes - KMT5B and SHANK2 Sources: ClinGen |
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