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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37404-Gain | Arina Puzriakova commented on Region: ISCA-37404-Gain | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37404-Gain |
Arina Puzriakova GRCh38 position for ISCA-37404-Gain was changed from 22782170-28134729 to 22782170-28134728. Required Overlap Percentage for ISCA-37404-Gain was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.401 | ISCA-37404-Gain | Louise Daugherty Added comment: Comment on phenotypes: minor amendment to type in phenotype | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.401 | ISCA-37404-Gain | Louise Daugherty Phenotypes for Region: ISCA-37404-Gain were changed from chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; delayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v2.398 | ISCA-37404-Gain |
Louise Daugherty Region: ISCA-37404-Gain was added Region: ISCA-37404-Gain was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37404-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37404-Gain were set to 18374305; 16840569; 9106540 Phenotypes for Region: ISCA-37404-Gain were set to chromosome 15q11-q13 duplication syndrome; include autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; 608636; elayed development and intellectual disability associated with abnormal behavior and dysmorphic facial features. Additional variable features may include thin corpus callosum on brain imaging and sleep disturbances. Carrier females may be mildly affected |
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