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Intellectual disability - microarray and sequencing v3.1520 | ISCA-37441-Loss | Eleanor Williams commented on Region: ISCA-37441-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v3.1520 | ISCA-37441-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37441-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Intellectual disability - microarray and sequencing v2.398 | ISCA-37441-Loss |
Louise Daugherty Region: ISCA-37441-Loss was added Region: ISCA-37441-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37441-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37441-Loss were set to 15852040; 16319823; 20140962 Phenotypes for Region: ISCA-37441-Loss were set to Potocki-Shaffer syndrome; multiple exostoses; biparietal foramina; intellectual disability; strabismus; minor craniofacial anomalies; myopia; ophthalmologic anomalies; 601224; mental retardation; enlarged anterior fontanel; genital abnormalities in males; parietal foramina; developmental delay |