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| Early onset or syndromic epilepsy v2.500 | ISCA-37430-Loss | Arina Puzriakova commented on Region: ISCA-37430-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v2.500 | ISCA-37430-Loss |
Arina Puzriakova Triplosensitivity Score for ISCA-37430-Loss was changed from None to . Required Overlap Percentage for ISCA-37430-Loss was changed from 80 to 60. |
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| Early onset or syndromic epilepsy v1.246 | ISCA-37430-Loss |
Rebecca Foulger Triplosensitivity Score for ISCA-37430-Loss was changed from to None. Source NHS GMS was added to Region: ISCA-37430-Loss. |
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| Early onset or syndromic epilepsy v1.239 | ISCA-37430-Loss | Rebecca Foulger commented on Region: ISCA-37430-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Early onset or syndromic epilepsy v0.410 | ISCA-37430-Loss |
Louise Daugherty Region: ISCA-37430-Loss was added Region: ISCA-37430-Loss was added to Genetic Epilepsy Syndromes. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37430-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37430-Loss were set to 19584063; 1671808; 1879837; 3391613; 12621583; 7634541 Phenotypes for Region: ISCA-37430-Loss were set to microcephaly, dysgenesis of the corpus callosum, and cerebellar atrophy, as well as neurobehavioral disorders, including delayed development, mental retardation, and attention deficit-hyperactivity disorder. Patients with duplications of YWHAE tended to have macrosomia, facial dysmorphism, and mild developmental delay; growth restriction, craniofacial dysmorphisms, structural abnormalities of brain and cognitive impairment; Chromosome 17p13.3 duplication syndrome; prominent forehead, bitemporal hollowing, short nose with upturned nares, protuberant upper lip, thin vermilion border, and small jaw; Characteristic facies, pre- and post-natal growth retardation; 247200; classic lissencephaly (pachygyria, incomplete or absent gyration of the cerebrum), microcephaly, wrinkled skin over the glabella and frontal suture, prominent occiput, narrow forehead, downward slanting palpebral fissures, small nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities; Miller-Dieker lissencephaly syndrome |
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