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| Common deletion and duplication syndromes v0.143 | ISCA-46302-Gain |
Sarah Milton Region: ISCA-46302-Gain was added Region: ISCA-46302-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for Region: ISCA-46302-Gain were set to 46,XY sex reversal 2, MONDO:0010226 Review for Region: ISCA-46302-Gain was set to GREEN Added comment: Established triplosensitive region with XY individuals affected and XX carriers unaffected. Presents with male to female sex reversal. Sources: ClinGen |
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