A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

ConclusionThis rather nonsyndromic and nonspecific clinical picture implies that additional patients withC12orf4 defects will likely continue to be identified using the “genotype‐first” approach, rather than based on clinical assessment. The phenotype needs further delineation in future reports.

Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek Tags: CLINICAL REPORT Source Type: research