All individuals with variants in gene COPB2

6 entries on 1 page. Showing entries 1 - 6.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
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Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00383378 Fam1Pat1 PubMed: Marom 2021 - F - United States white;native American - - - - ? birth 39w, no intra-uterine growth retardation or small for age at birth, weight 27th, height 35th, OFC 0.65; osteopenia; fractures; developmental delay; no intellectual disability, learning disability, ADHD; no spasticity, normal gait; no seizures; MRI brain focal cortical dysplasia 1 1 Johan den Dunnen
00383379 Fam2Pat2 PubMed: Marom 2021 - F - United States white;native American - - - - ? birth 33w, no intra-uterine growth retardation or small for age at birth, weight 43rd, height 10th, OFC -2.19; osteopenia; no fractures; developmental delay; mild intellectual disability; spasticity, wide-based unsteady gait, progressed to require walker and wheelchair; no seizures; MRI brain normal 1 1 Johan den Dunnen
00383380 Fam3Pat3 PubMed: Marom 2021 - M - - white;Jewish-Ashkenazi - - - - ? birth at term, no intra-uterine growth retardation or small for age at birth; osteopenia; fractures; developmental delay; no spasticity, wide-based gait; no seizures; MRI brain normal 1 1 Johan den Dunnen
00383381 Fam4Pat4 PubMed: Marom 2021 - F - - Asia - - - - ? birth 40w, no intra-uterine growth retardation or small for age at birth, weight 25th, height 70th, OFC -4; no fractures; developmental delay; possible spasticity in ankles bilaterally (mild, with normal gait); no seizures; MRI brain normal 1 1 Johan den Dunnen
00383382 Fam5Pat5 PubMed: DiStasio 2017, PubMed: Marom 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - United States white;native American - - - - ? birth 36w, no intra-uterine growth retardation or small for age at birth, weight 63rd, height 1st, OFC -8; osteopenia; no fractures; developmental delay; severe intellectual disability, nonverbal; spasticity, non-ambulatory; seizures; MRI brain microcephaly, simplified gyral pattern, thin corpus callosum, delayed myelination 1 2 Johan den Dunnen
00383383 Fam5Pat6 PubMed: DiStasio 2017, PubMed: Marom 2021 - F - United States white;native American - - - - ? birth 35w, no intra-uterine growth retardation or small for age at birth, weight 1st, height 30th, OFC -5.5; osteopenia; no fractures; developmental delay; severe intellectual disability, nonverbal; spasticity, non-ambulatory; seizures; MRI brain microcephaly, simplified gyral pattern, thin corpus callosum, delayed myelination 1 1 Johan den Dunnen
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