TABLE 1.

Patients information at the diagnosis and at the time of investigations

ID No.	Gender	Consanguinity	Age at diagnosis	Phe (μmol/L)	Age at investigations	Microcephaly	Hypotonia	Epilepsy	Developmental delay	ADHS	Brain MRI abnormal	Spasticity	Hyperreflexia	Died
1	M	Second cousin	10 m	1670	3 y 4 mo	+	+	+	+		+
2	F	First cousin	1 wk	354	1 y 8 mo
3	F	First cousin	1 y 6 mo	755	6 y 5 mo	+			+	+		+	+
4	F	Second cousin	2 wk	777	1 y 5 mo	+	+		+
5	F	−	1 wk	1300	2 y
6	F	Second cousin	2 mo	785	3 y 5 mo					+
7	M	First cousin	1 y 6 mo	−	5 y 11 mo	+	+		+	+
8	F	−	2 mo	926	1 y 4 mo
9	M	First cousin	1 wk	1240	2 y 2 mo
10	M	First cousin	1 wk	1150	2 y
11	M	−	1 wk	908	8 m
12	F	First cousin	1 wk	1301	1 y 5 mo
13	F	First cousin	1 y 6 mo	1152	20 y 9 mo	+	+	+	+		+
14	M	Not related	1 mo	1100	3 y 6 mo	+		+	+		+	+	+
15	F	Not related	1 mo	400	5 y 11 mo
16	M	First cousin	1 y 6 mo	−	21 y 9 mo	+		+	+		+
17	M	−	1 wk	−	13 y 2 mo
18	M	−	1 wk	−	13 y 2 mo
19	M	−	1 wk	−	13 y 2 mo
20	M	Second cousin	1 y 6 mo	−	11 y 2 mo	+			+			+
21	M	First cousin	−	−	8 y 5 mo	+			+		+	+	+
22	F	First cousin	1 y 6 mo	−	7 y 9 mo		+		+
23	M	−	1 y 8 mo	288	7 y 1 mo	+		+	+++		+	+	+
24	M		8 mo	205	2 y 7 mo	+			++
25	F	Not related	9 mo	−	6 y 11 mo	+		+	+++		+	+	+
26	M	First cousin	7 mo	−	4 y 4 mo		+	+	++	+	+	+	+
27	M	−	−	−	8 y 3 mo	+		+	+++	+	+	+	+
28	M	−	−	−	10 y 5mo	+		+	+++	+	+	+	+
29	M	First cousin	1 wk	1016	1 y 3 mo									+
30	F	First cousin	3 mo	2107	1 y 5 mo	+	+	+	+			+	+
31	M	First cousin	1 mo	918	1 y 1 mo	+	+	+	+			+	+
32	M	Not related	1 wk	1431	1 y 6 mo	+	+						+
33	F	First cousin	4 mo	347	1 y 5 mo	+	+	+	+		+	+	+	+

Abbreviation: ADSH, attention deficit hyperactivity syndrome.