You-Hoover-Fong syndrome is an autosomal-recessive syndromic form of intellectual disability. It has been reported that compound heterozygous variants in TELO2 were found from six affected individuals from four families with intellectual disability and neurological and other congenital abnormalities, suggesting that these TELO2 variants result in loss of function and cause this disease.
You J, Sobreira NL, Gable DL, Jurgens J, Grange DK, Belnap N, Siniard A, Szelinger S, Schrauwen I, Richholt RF, Vallee SE, Dinulos MB, Valle D, Armanios M, Hoover-Fong J
タイトル
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex.
