Other genomic diagnoses not included in the clinical outcome audit, include DNAL1 (Primary ciliary dyskinesia 16, MIM: 614017), SPAST (Spastic paraplegia 4, MIM:182601) and FGFR3 (Thanatophoric dysplasia, MIM:187600). Here, FGFR3 is linked to thanatophoric dysplasia.