Table 1.

Summary of all the clinical characteristics of the 89 patients in the supplementary tables. Data are presented as the means (SD) or medians (IQR) for continuous measures, and n (%) for categorical measures

	Male	Female	Total	p value
	N = 60	N = 29	N = 89
Age (month)	82.5 (59.0–99.0)	84.5 (57.0–104.0)	82.5 (59.0–100.0)	0.85
Weight z score	−0.7 (2.1)	−1.1 (1.7)	−0.9 (2.0)	0.44
Residence				0.65
Delta	28 (47%)	15 (52%)	43 (48%)
Upper Egypt	32 (53%)	14 (48%)	46 (52%)
Family history	21 (35%)	8 (28%)	29 (33%)	0.48
Consanguinity	39 (65%)	18 (62%)	57 (64%)	0.79
Macrocephaly	44 (73%)	17 (59%)	61 (69%)	0.16
Diagnosis delay (month)	6 (1–11)	7 (2–12)	6 (1–12)	0.64
Type of onset				0.34
Acute	41 (68%)	23 (79%)	64 (72%)
Insidious	14 (23%)	3 (10%)	17 (19%)
Screening	5 (8%)	3 (10%)	8 (9%)
Onset-associated intercurrent infection	41 (68%)	23 (79%)	64 (72%)	0.28
Sibling death	11 (18%)	5 (17%)	16 (18%)	0.90
Tone				0.62
Hyper	36 (60%)	18 (62%)	54 (61%)
Hypo	19 (32%)	7 (24%)	26 (29%)
Normal	5 (8%)	4 (14%)	9 (10%)
Gross motor delay				0.87
Mild	9 (15%)	4 (14%)	13 (15%)
Moderate	15 (25%)	6 (21%)	21 (24%)
Severe	36 (60%)	19 (66%)	55 (62%)
Fine motor delay				0.38
Mild	6 (10%)	6 (21%)	12 (13%)
Moderate	31 (52%)	13 (45%)	44 (49%)
Severe	23 (38%)	10 (34%)	33 (37%)
Speech delay				0.59
Mild	10 (17%)	7 (24%)	17 (19%)
Moderate	28 (47%)	14 (48%)	42 (47%)
Severe	22 (37%)	8 (28%)	30 (34%)
Cognitive delay				0.37
Mild	52 (87%)	23 (79%)	75 (84%)
Moderate	8 (13%)	6 (21%)	14 (16%)
Convulsion	23 (38%)	13 (45%)	36 (40%)	0.56
Intracranial hemorrhage	4 (7%)	2 (7%)	6 (7%)	0.97
Morbidity score	2 (1–3)	2 (1–3)	2 (1–3)	0.37
Dystonia	36 (60%)	17 (59%)	53 (60%)	0.90
Dystonia movement scale	1 (0–29.75)	0 (0–59.5)	0 (0–48)	0.58
Dystonia disability scale	0 (0–28)	0 (0–30)	0 (0–29)	0.37