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| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37415-Loss | Arina Puzriakova commented on Region: ISCA-37415-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability - microarray and sequencing v3.1520 | ISCA-37415-Loss |
Arina Puzriakova GRCh38 position for ISCA-37415-Loss was changed from 15410597-16198411 to 15417854-16198408. Required Overlap Percentage for ISCA-37415-Loss was changed from 80 to 60. |
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| Intellectual disability - microarray and sequencing v2.398 | ISCA-37415-Loss |
Louise Daugherty Region: ISCA-37415-Loss was added Region: ISCA-37415-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37415-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37415-Loss were set to 19843651; 18550696; 24246141 Phenotypes for Region: ISCA-37415-Loss were set to PMID: 18550696 Phenotypic variability, common features were identified: mental retardation, microcephaly and epilepsy in three patients, two of these had also short stature, and two other deletion carriers ascertained prenatally presented with cleft lip and midline defects |
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