The affected contactin-associated protein 1 (CNTNAP1) gene has been previously implicated in human autosomal recessive neurological diseases with a broad spectrum of clinical phenotypes and neonatal and childhood onsets: congenital hypomyelinating neuropathy type 3 (OMIM 618186), lethal congenital contracture syndrome 7 (OMIM 616286), and childhood-onset Charcot–Marie–Tooth disease [32]. Here, CNTNAP1 is linked to lethal congenital contracture syndrome.