All individuals with variants in gene EXOC7

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00413437 Fam1 PubMed: Coulter 2020 4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives F yes - - <00y02m - - - ? see paper; ..., infantile lethality, neonatal microencephaly, seizures, arthrogryposis, born with myoclonic seizures and arthrogryposis multiplex; microcephaly (1/2) 1 2 Johan den Dunnen
00413438 FamII PubMed: Coulter 2020 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - - - - - - - ? see paper; ..., developmental delay, seizures, mild microcephaly (-2.6 SD); MRI brain prominent central and cortical atrophy temporal lobes 1 1 Johan den Dunnen
00413439 FamIII PubMed: Coulter 2020 2-generation family, 2 affected female fetuses, unaffected heterozygous carrier parents/relatives F no - - - - - - ? see paper; ..., autopsy fetuses mild microcephaly, cerebellar hypoplasia 2 2 Johan den Dunnen
00413440 FamIV PubMed: Coulter 2020 4-generation family, 3 affected (2, 2M), unaffected heterozygous carrier parents/relatives F;M yes - - - - - - ? see paper; ..., seizures, intellectual disability, developmental delay MRI brain atrophy 1 3 Johan den Dunnen
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