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Intellectual disability v3.1520 ISCA-37397-Gain Arina Puzriakova commented on Region: ISCA-37397-Gain
Intellectual disability 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.
Intellectual disability 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