Table 2.

Changed specific clinical management of ten of 23 genetically diagnosed patients.

ID	Causal gene	Medication change	Surgery change	Avoid examination	Procedure change	Morbidity avoided	Mortality avoided
Case 4	SERAC1	Vitamin cocktail and energy mixtures treatment			Monitor blood gas + liver and kidney function + muscle enzyme + hematuria metabolite	Avoided morbidity from symptomatic monitor	Yes
Case 5	IL10RA		Avoid overmuch enteroscopy		Changed to HSCT	Avoided severe diarrhea, severe malnutrition	Yes
Case 8	STXBP1	Levetiracetam and topiramate was suggested to treat seizure, use one or in combination				Avoid potential neurological damage because of prolonged uncontrolled seizures	Yes
Case 9	KCNQ2	Change PB to sodium valproate syrup					Yes
Case 13	GAA	Enzyme replacement	Avoid muscle biopsy	Avoid EMG, lab biochemical test and another accessory test			Yes
Case 16	IL7R				Early prepared to HSCT	Avoid severe infection	Yes
Case 17	SCN2A	Valproate + levetiracetam				Avoid uncontrolled seizures	Yes
Case 25	TCIRG1				Changed to HSCT		Yes
Case 32	IFNGR1				Changed to HSCT		No
Case 33	CD40LG			Avoid overmuch chest radiography, head MRI	Changed to HSCT	Avoid severe infection, pneumonia progress	Yes

EMG electromyography, PB phenobarbital, HSCT hematopoietic stem cell transplantation, MODS multiple organ dysfunction syndromes.