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| Intellectual disability syndromic and non-syndromic v1.586 | ISCA-37468-Loss | Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.585 | ISCA-37468-Loss | Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.23 deletion syndrome to Chromosome Xp11.23 deletion syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.585 | ISCA-37468-Loss | Sarah Milton Phenotypes for Region: ISCA-37468-Loss were changed from Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy to Chromosome Xp11.23 deletion syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.584 | Sarah Milton Copied Region ISCA-37468-Loss from panel Common deletion and duplication syndromes | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability syndromic and non-syndromic v1.584 | ISCA-37468-Loss |
Sarah Milton Region: ISCA-37468-Loss was added Region: ISCA-37468-Loss was added to Intellectual disability syndromic and non-syndromic. Sources: ClinGen,Expert Review Green SV/CNV tags were added to Region: ISCA-37468-Loss. Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for Region: ISCA-37468-Loss were set to PMID: 22126752; 16385466; 20186789 Phenotypes for Region: ISCA-37468-Loss were set to Chromosome Xp11.3 deletion syndrome MIM#300578; intellectual disability; retinal dystrophy |
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