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| Severe microcephaly v2.294 | ISCA-37406-Loss | Ivone Leong commented on Region: ISCA-37406-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.294 | ISCA-37406-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37406-Loss was changed from None to . Required Overlap Percentage for ISCA-37406-Loss was changed from 80 to 60. |
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| Severe microcephaly v1.64 | ISCA-37406-Loss |
Louise Daugherty Triplosensitivity Score for ISCA-37406-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37406-Loss. |
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| Severe microcephaly v1.62 | ISCA-37406-Loss | Louise Daugherty reviewed Region: ISCA-37406-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v1.37 | ISCA-37406-Loss |
Louise Daugherty Region: ISCA-37406-Loss was added Region: ISCA-37406-Loss was added to Primary Microcephaly - Microcephalic Dwarfism Spectrum. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37406-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37406-Loss were set to 10573006; 16783566 Phenotypes for Region: ISCA-37406-Loss were set to PMID: 10573006 death in infancy, accessory spleens, hypoplastic left heart, abnormal pulmonary lobulation, renal agenesis (patient 1), severe neonatal seizures (patient 2). PMID 16783566: failure to thrive, life-threatening malformations, and/or critical infections, and all died in infancy (5 weeks, 7 months, and 9 months, respectivelyFrom Genetics Home Reference: short stature, moderate to severe intellectual disability, distinctive facial features, and broad thumbs and first toes; 610543 |
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