Severe microcephalyGene: COPB2
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).
Created: 15 Sep 2021, 6:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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