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| Common deletion and duplication syndromes v0.39 | ISCA-37408-Loss | Zornitza Stark Marked Region: ISCA-37408-Loss as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.39 | ISCA-37408-Loss | Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.39 | ISCA-37408-Loss | Zornitza Stark Classified Region: ISCA-37408-Loss as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.39 | ISCA-37408-Loss | Zornitza Stark Region: isca-37408-loss has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Common deletion and duplication syndromes v0.38 | ISCA-37408-Loss |
Zornitza Stark Region: ISCA-37408-Loss was added Region: ISCA-37408-Loss was added to Common deletion and duplication syndromes. Sources: Expert list SV/CNV tags were added to Region: ISCA-37408-Loss. Mode of inheritance for Region: ISCA-37408-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for Region: ISCA-37408-Loss were set to 25938782; 16963482 Phenotypes for Region: ISCA-37408-Loss were set to Chromosome 2p16.1-p15 deletion syndrome 612513; intellectual disability; autism; microcephaly; dysmorphic features Review for Region: ISCA-37408-Loss was set to GREEN Added comment: Well established recurrent CNV, deletions are characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. Many patients have behavioral disorders, including autistic features, as well as structural brain abnormalities, such as pachygyria or hypoplastic corpus callosum. Those with deletions including the BCL11A gene also have persistence of fetal hemoglobin (HbF), which is asymptomatic. Sources: Expert list |
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