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| Intellectual disability v3.1130 | RORB | Arina Puzriakova Phenotypes for gene: RORB were changed from generalized epilepsies with predominant absence seizures, intellectual disability to {Epilepsy, idiopathic generalized, susceptibility to, 15}, OMIM:618357 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.562 | RORB |
Louise Daugherty gene: RORB was added gene: RORB was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: RORB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RORB were set to 27352968; 24355400 Phenotypes for gene: RORB were set to generalized epilepsies with predominant absence seizures, intellectual disability Review for gene: RORB was set to RED Added comment: PMID 27352968 identified a patient with intellectual disability and a balanced translocation where one breakpoint truncates RORB and also found two de novo deletions in patients with behavioral and cognitive impairment and epilepsy: a 52-kb microdeletion involving exons 5-10 of RORB and a larger 9q21-microdeletion. Sources: Literature |
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