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| Common deletion and duplication syndromes v0.144 | ISCA-46743-Gain |
Sarah Milton Region: ISCA-46743-Gain was added Region: ISCA-46743-Gain was added to Common deletion and duplication syndromes. Sources: ClinGen Mode of inheritance for Region: ISCA-46743-Gain was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for Region: ISCA-46743-Gain were set to Xq25 duplication syndrome, MIM#300979; Xq25 deletion syndrome Review for Region: ISCA-46743-Gain was set to GREEN Added comment: Established recurrent CNV associated with short stature, delayed development ID, carrier females may be affected. Sources: ClinGen |
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