Cerebellar, ocular, craniofacial, and genital syndrome (COFG) is an autosomal recessive syndrome caused by loss of function mutations in MAB21L1. COFG is characterized by intellectual disability, scrotal agenesis, ophthalmological anomalies, cerebellar hypoplasia and facial dysmorphism.
Rad A, Altunoglu U, Miller R, Maroofian R, James KN, Caglayan AO, Najafi M, Stanley V, Boustany RM, Yesil G, Sahebzamani A, Ercan-Sencicek G, Saeidi K, Wu K, Bauer P, Bakey Z, Gleeson JG, Hauser N, Gunel M, Kayserili H, Schmidts M
タイトル
MAB21L1 loss of function causes a syndromic neurodevelopmental disorder with distinctive cerebellar, ocular, craniofacial and genital features (COFG syndrome).
