TABLE 3.

Phenotype and biochemical results for nine patients with unmatched manifestations.

No.	Age (year)	Clinical manifestation	Before treatment			After treatment			Variation 1	Variation 2
			C5DC	C5DC/C8	GA	C5DC	C5DC/C8	GA
1	0.6	Unable to raise her head and turn over at 3 months old following a severe fever	1.49	23.23	1,000	1.09	23.43	612.94	c.646-4_639 del CCAGGATC	c.1244-2 A>C
2	5.2	Normal	2.44	65	1,313.15	3.36	29.66	662.71	c.646-4_639 del CCAGGATC	c.1244-2 A>C
3	1.8	Unable to walk or speak after 18 months of age	2.36	12.54	284.20	1.16	47.57	157.7	c.452C>T (p.P151L)	c.873delC (p.N291Kfs*41)
4	8.2	Had drainage of hydrocephalus at the age of 8 months	0.31	25.89	368.20	1.57	18.32	426.7	c.452C>T (p.P151L)	c.873delC (p.N291Kfs*41)
5	0.7	Had a seizure at the age of 8 months	0.41	7.64	16.91	0.10	1.46	2.6	c.1169G>A (p.G390E)	c.406G>T (p.G136C)
6	0.7	Hypotonia in both legs at the age of 8 months	1.04	6.43	129.26	0.99	11.93	16.84	c.109_110delCA (p.Q37Efs*5)	c.554G>A (p.G185E)
7	0.5	Had seizures and vomiting at 6 months old; unable to raise her head at the age of 19 months	0.26	3.04	40.20	0.20	1.76	2.02	c.755G>A (p.G252D)	c.533G>A (p.G178E)
8	0.5	Hypotonia and unable to raise her head at 6 months old	0.45	9.06	14.09	0.24	3.2	2.53	c.755G>A (p.G252D)	c.1244-2 A>C
9	1.2	Had seizures and regressed movement at 14 months of age	0.52	–	7.88	0.183	14.98	5.92	c.908G>A (p.G303A)	c.1045G>A (p.A349T)