Table 2.

Summary table with the most relevant clinical features of the proband compared to other cases involving missense mutations of MED13L, as well as the common presentation of the MED13L haploinsufficiency syndrome

	p.Cys63Arga	p.Asp860Glyb	p.Asp860Glyc	p.Pro866Leud	p.Pro866Alae	p.Cys1160Argf	p.Arg1416Hisg	p.Gly1899Argh	p.Gly1899Argi	p.Ser2002Leuj	p.Thr2162Metk	Key phenotype features of MED13L-associated diseasel
Cardiac anomalies	−	?	−	?	+	+	?	?	?	?	?	+
Visual problems	+	?	−	?	+	?	?	?	?	+	?
Facial dysmorphisms	+	+	+	+	+	?	?	+	+	+	+	+
Motor problems
Motor delay	+	?	+	?	?		?	?	?	+	?
Hypotonia	+	?	+	?	?	+	?	?	+	+	?	+
Skull anomalies	−	?	?	+	+	?	?	+	?	?	?	+
Structural brain anomalies	−	?	+	?	+	?	?	?	?	+	?
EEG anomalies	+	+	+	?	+	+	?	?	?	?	?
Cognitive impairment
Behavioral problems	+	?	+	?	?	?	?	?	+	?	+	+
Developmental delay	+	?	+	?	+	+	?	?	?	?	?
Intellectual disability	+	+	+	+	?	?	+	?	+	+	+	+
Speech/language
impairment	+	?	+	?	?	?	?	?	?	?	?

The 4 missense mutations found by Muncke et al. [2003] (p.Lys686Gln, p.Glu251Gly, Arg1872His, and Asp2023Gly) are reported to entail cardiac problems only; no behavioral or cognitive deficits are mentioned in their paper. +, present; –, absent; ?, unknown.

^aOur proband.

^bTrio 22 from Gilissen et al. [2014].

^cPatient 2 from Asadollahi et al. [2017].

^dDECIPHER patient 258131.

^eDECIPHER patient 268019.

^fDECIPHER patient 265953.

^gFamily M142 from Najmabadi et al. [2011].

^hPatient 2 from Caro-Llopis et al. [2016] (DECIPHER patient 262545).

ⁱDECIPHER patient 323183.

^jDECIPHER patient 260542.

^kDECIPHER patient 272205.

^lSummarized from Adegbola et al. [2015] (Table 3) and Asadollahi et al. [2017] (Table 2).