As far as human diseases are concerned, many of these genes are associated with developmental disorders, in particular craniofacial abnormalities, such as holoprosencephaly type 11 (CDON)35, microcephaly (CEP152, FGF10)34,36, Seckel syndrome 5 and primary microcephaly type 9 (CEP152)37, 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. This evidence concerns the gene CNTN1 and Compton-North congenital myopathy.