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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ISCA-37425-Loss | Arina Puzriakova commented on Region: ISCA-37425-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.116 | ISCA-37425-Loss |
Arina Puzriakova GRCh38 position for ISCA-37425-Loss was changed from 176301975-177586960 to 176301976-177620792. Triplosensitivity Score for ISCA-37425-Loss was changed from to None. Required Overlap Percentage for ISCA-37425-Loss was changed from 80 to 60. |
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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.42 | ISCA-37425-Loss |
Louise Daugherty Region: ISCA-37425-Loss was added Region: ISCA-37425-Loss was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37425-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37425-Loss were set to macrocephaly, overgrowth and advanced bone age; colpocephaly; Sotos syndrome; macrocephaly; 117550; rapid growth, acromegalic features, and a nonprogressive cerebral disorder with mental retardation. High-arched palate and prominent jaw |
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