Table 1.

Summary of symptoms associated exon-specific documented missense variants in MED13L syndrome.

Variant	Phenotype	Exon location
p.Pro866Leu10,39	ID, ASD, Seizure, hypotonia, severe motor delay	15
p.Pro869Ser 10	ID, seizures, severe motor delay	15
p.Cys1131Tyr 10	Severe motor delay	17
p.Ser2163Leu10,39	ID, ASD, seizures, hypotonia	29
p.Ser2177Tyr 10	ID, ASD, seizures, hypotonia	31
p.Thr2162Met10,39	ID, moderate speech and motor delay	29
p.Gly1899Arg 10	ID, moderate speech and motor delay	26
p.Ser2002Leu 10	ID, speech and motor delay, hypotonia	27

ASD, autism spectrum disorder; ID, intellectual disability.