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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37418-Gain | Arina Puzriakova commented on Region: ISCA-37418-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37418-Gain |
Arina Puzriakova GRCh38 position for ISCA-37418-Gain was changed from 16853797-20316338 to 16906714-20309889. Required Overlap Percentage for ISCA-37418-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37418-Gain |
Louise Daugherty Region: ISCA-37418-Gain was added Region: ISCA-37418-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37418-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37418-Gain were set to infantile hypotonia, failure to thrive, mental retardation, autistic features, sleep apnea, and structural cardiovascular anomalies; 610883; characterized by hypotonia, poor feeding, failure to thrive, developmental delay, mild-moderate intellectual deficit, and neuropsychiatric disorders. Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated |
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