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| Common deletion and duplication syndromes v0.14 | ISCA-37392-Gain | Zornitza Stark Phenotypes for Region: ISCA-37392-Gain were changed from 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation to Chromosome 7q11.23 duplication syndrome, MIM# 609757; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.13 | ISCA-37392-Gain | Zornitza Stark edited their review of Region: ISCA-37392-Gain: Changed phenotypes: Chromosome 7q11.23 duplication syndrome, MIM# 609757, intellectual disability, hypotonia, macrocephaly, seizures, aortic dilatation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.5 | ISCA-37392-Gain | Zornitza Stark Tag SV/CNV tag was added to Region: ISCA-37392-Gain. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.5 | ISCA-37392-Gain | Zornitza Stark Marked Region: ISCA-37392-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.5 | ISCA-37392-Gain | Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.5 | ISCA-37392-Gain | Zornitza Stark Classified Region: ISCA-37392-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.5 | ISCA-37392-Gain | Zornitza Stark Region: isca-37392-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.4 | ISCA-37392-Gain |
Zornitza Stark Region: ISCA-37392-Gain was added Region: ISCA-37392-Gain was added to Common deletion and duplication syndromes. Sources: Expert Review Mode of inheritance for Region: ISCA-37392-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37392-Gain were set to 33187326; 27615053; 26610320 Phenotypes for Region: ISCA-37392-Gain were set to 7q11.23 duplication syndrome; intellectual disability; hypotonia; macrocephaly; seizures; aortic dilatation Review for Region: ISCA-37392-Gain was set to GREEN Added comment: Well established recurrent CNV. Sources: Expert Review |
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