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| Common deletion and duplication syndromes v0.117 | ISCA-37431-Gain | Zornitza Stark Marked Region: ISCA-37431-Gain as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.117 | ISCA-37431-Gain | Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.117 | ISCA-37431-Gain | Zornitza Stark Classified Region: ISCA-37431-Gain as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.117 | ISCA-37431-Gain | Zornitza Stark Region: isca-37431-gain has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.116 | ISCA-37431-Gain |
Zornitza Stark Region: ISCA-37431-Gain was added Region: ISCA-37431-Gain was added to Common deletion and duplication syndromes. Sources: Expert list Mode of inheritance for Region: ISCA-37431-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37431-Gain were set to 22241097 Phenotypes for Region: ISCA-37431-Gain were set to Chromosome 17q11.2 duplication syndrome, 1.4-Mb MIM#618874; NF1 microduplication; intellectual disability; micro- and macrocephaly; seizures; dysmorphic features Review for Region: ISCA-37431-Gain was set to GREEN Added comment: The NF1 microduplication syndrome is characterized by mild to moderate impairment of intellectual development and mild facial dysmorphisms, with variable other features including early-onset baldness, tooth enamel hypoplasia, seizures, and macro- or microcephaly. Neurofibromas have not been reported Sources: Expert list |
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