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| Common deletion and duplication syndromes v0.150 | ISCA-46296-Loss |
Sarah Milton Region: ISCA-46296-Loss was added Region: ISCA-46296-Loss was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-46296-Loss were set to PMID: 25217958 Added comment: HI3 deletion defined by Clingen, characteristic features include dev delay, ID, seizures, ASD Slightly small del than ISCA 37396 Sources: ClinGen |
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