Table 1.

Comparison of major clinical features and their frequency in patients with likely pathogenic variants in the MED13L gene and this study patient.

	Clinical feature	Number of patients	This study patient
Clinical findings	ID or DD	69/69	+(severe ID and DD)
	Speech delay	68/69	+(no speech)
	Hypotonia	46/66	+(axial hypotonia)
	Coordination problems	20/60	+(stereotypic movements, wide-based gait)
	Congenital heart defects	12/64	–
	Autistic features	16/69	–
	Abnormal brain MRI	26/58	+(lateral ventricles asymmetry, wider posterior part of the left ventricle)
	Seizures	10/63	–
	Behavioural problems	16/51	+(self-destructive behaviour – biting hands)
	Strabismus	3/24	+(convergent strabismus – esotropia)
Dysmorphic features	Depressed/flat nasal bridge	19/33	+(flat nasal bridge)
	Broad/prominent forehead	16/21	+(prominent frontal eminence)
	Bulbous nasal tip	50/67	+
	Upslanting palpebral fissures	26/65	+(slight epicanthic folds)
	Low seat ears	17/33	–
	Bitemporal narrowing	8/33	–
	Horizontal eyebrows	7/33	+
	Macrosomia	14/33	+
	Macroglossia	9/33	–