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| Severe microcephaly v2.229 | COPB2 |
Eleanor Williams gene: COPB2 was added gene: COPB2 was added to Severe microcephaly. Sources: Literature Mode of inheritance for gene: COPB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 29036432 Phenotypes for gene: COPB2 were set to Microcephaly, HP:0000252 Review for gene: COPB2 was set to RED Added comment: PMID: 29036432 - DiStasio et al 2017 - report of severe microcephaly (developing to be below -4.0 SD) and severe intellectual disability in the two siblings with a COPB2 homozygous variant. The siblings were later investigated for low bone mass in PMID: 34450031 - Marom et al 2021 (in which heterozygous variants in COPB2 in 4 other families with probands with osteoporosis and developmental delay were identified, but no microcephaly reported). Sources: Literature |
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