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Intellectual disability - microarray and sequencing v3.1520 | ISCA-37397-Gain | Arina Puzriakova commented on Region: ISCA-37397-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1520 | ISCA-37397-Gain |
Arina Puzriakova GRCh38 position for ISCA-37397-Gain was changed from 21443089-23306926 to 21562828-23306924. Required Overlap Percentage for ISCA-37397-Gain was changed from 80 to 60. |
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Intellectual disability - microarray and sequencing v2.398 | ISCA-37397-Gain |
Louise Daugherty Region: ISCA-37397-Gain was added Region: ISCA-37397-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37397-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37397-Gain were set to 18414210; 22140377; 19193630 Phenotypes for Region: ISCA-37397-Gain were set to seizures; failure to thrive; ADHD; heart defects; speech disturbances; hypernasal speech; hearing impariment; abnormal behaviour; developmental delay; hypotonia; micro- or macrocephaly |