Table 3.

Patients carrying MECP2 p.Arg167Trp from the literature.

Study	Main clinical feature	Inheritance	Additional symptoms
Neul et al. (3)	One man with cognitive impairment	Inherited from an asymptomatic mother	Hand clapping, finger rubbing lost but later regained hand skills, peripheral vasomotor symptoms, scoliosis, bruxism, sleep issues, screaming, and poor pain response
Bianciardi et al. (11)	Three affected brothers with language delay and learning disabilities	Inherited from an asymptomatic mother
	Patient 1: severe intellectual disability		Apathy, anxiety, hypochondria, shyness, obsessive demand for food, hypersomnia, short stature, obesity, macrocephaly, downturned nasal tip with wide pinnae, short philtrum, anteverted ears, and large hands
	Patient 2: moderate intellectual disability		Poor language, aggressiveness, low frustration tolerance, episodes of inappropriate laughter, apathy, obsessive demand for food, hypersomnia, short stature, obesity, high forehead, downturned nasal tip with wide pinnae, short philtrum, thin lips, posteriorly rotated ears, and large hands
	Patient 3: severe intellectual disability		Language limited to simple sentences, social impairments, unmotivated laughter, apathy, obsessive demand for food and hypersomnia, high myopia, keratoconus, short stature, obesity, macrocephaly, cleft right ear lobe, and similar facial appearance as in brothers
Sheikh et al. (40)	One man with developmental delay	No information	Mild motor delay and short phrases
Couvert et al. (6)	Four men with non-specific intellectual disability from one family	Inherited from asymptomatic mothers
	Two carrier women had normal intelligence but non-progressive slight resting tremor		-
	Patient 1: mild to moderate intellectual disability		Seizures, brisk tendon reflexes, tremor, hypoactive, and sometimes agitated
	Patient 2: mild intellectual disability		Decreased occipitofrontal circumference, brisk tendon reflexes, tremor, clumsiness, and hypoactive
	Patient 3: mild intellectual disability		Decreased occipitofrontal circumference, language delay, tremor, and sometimes irritable
	Patient 4: mild intellectual disability		Decreased occipitofrontal circumference, seizures, brisk tendon reflexes, ataxia, anxiety, and emotional disturbance

We searched the literature with Mastermind Genomic Intelligence Platform (https://www.genomenon.com/mastermind) for NM_001110792.1(MECP2):c.535C>T (p.Arg179Trp) variant. We did not include in this table cases where the MECP2 p.Arg167Trp was detected alongside another variant in the MECP2 gene or another gene.