BTK and respiratory failure: Overall, of 19 patients identified with CGS in a Medline search (19, 20, 26–32) including our patients P14 and P15, only one of five with a deletion of the last exon 19 in the BTK gene and the whole TIMM8A gene succumbed to pneumonitis and respiratory failure because of rapid progressive severe spasticity at 6 years of age.