Table 1

Chronic clinical features in SLSJ-COX patients

System	Signs/symptoms	Positive/total	%
Growth	Failure to thrive	23/44	52
Facial appearance		39/46	95
	Midfacial hypoplasia	35/39	90
	Wide nasal bridge	33/38	87
	Hypertelorism	18/32	56
	Large anterior fontanelle	14/24	58
	Prominent forehead	35/40	88
	Arched eyebrows	23/40	58
	Hirsutism	21/39	54
	Synophrys	10/38	26
Neurological status
	Developmental delay	43/43	100
	Hypotonia in infancy	43/43	100
	Ataxia	16/33	48
	Tremor	19/35	54
	Strabismus	14/40	35
	Seizure	6/44	13