BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Le C, Kalayci T, Uyguner Z, Karaman B, Demirören T, Beck B, Winnerling N, George E, DiTroia S, Héron D, Sabatier I, Rodan LH, Girisha KM, Radhakrishnan P, Saunders C, Sullivan B, Fleming E, Raza Alvi J, Sultan T, Houlden H, Efthymiou S, Guillen Sacoto MJ, Goodman M, Pierron L, de Sainte Agathe JM, Durr A, Mendez HR, Wheeler MT, Carter JN, Bernstein JA, Gagachovska B, Trajkova S, Brusco A, Sherr E, Argilli E, Undiagnosed Diseases Network