Indeed, we found genes implicated in holoprosencephaly type 11 (CDON)35, microcephaly (CEP152, FGF10)34,36, Duchenne muscular dystrophy with mental retardation and the absence of ERG b-wave (DMD)38, autosomal recessive mental retardation type 13 (TRAPPC9)33, generalized epilepsy with febrile seizures plus type 9 (STX1B)39 and Compton-North congenital myopathy (CNTN1)40. Here, CEP152 is linked to Congenital lethal myopathy, Compton-North type.