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Intellectual disability - microarray and sequencing v3.1520 | ISCA-37421-Loss | Arina Puzriakova commented on Region: ISCA-37421-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1520 | ISCA-37421-Loss |
Arina Puzriakova GRCh38 position for ISCA-37421-Loss was changed from 147105904-147922392 to 147105904-147917509. Required Overlap Percentage for ISCA-37421-Loss was changed from 80 to 60. |
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Intellectual disability - microarray and sequencing v2.398 | ISCA-37421-Loss |
Louise Daugherty Region: ISCA-37421-Loss was added Region: ISCA-37421-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37421-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37421-Loss were set to dysmorphic features; 612474; Moderate mental retardation, microcephaly, cardiac abnormalities, and cataracts; mild to moderate developmental delay |