Table 1.

Clinical Findings Associated with MTOR E1799K^a

	Proband	Sibling	Baynam 1	Baynam 2	Baynam 3
Lgab	+	+	-	+	+
Postnatal height/weight	Normal	Normal	Normal	Normal	Unknown
Macrocephaly	+5SD	+5SD	>+3SD	>+3SD	>+3SD
MRI	Megalencephaly	Megalencephaly	Mild ventricular prominence	Megalencephaly	Unknown
			Hypogenesis of corpus callosum	Perisylvian polymicrogyria,
			Small pons & medulla	Hypogenesis of corpus callosum
				Gray matter heterotopia
Intellectual disability	Mild disability/autism	Moderate disability/autism	Hyperactive/speech delay	Marked global delay	Marked global delay
Seizures	-	-	+	+	+
Eye	Iris coloboma	Iris coloboma	-	-	-
Noonan-like face	-	-	+	+	+
Small chest/large abdomen	-	-	+	+	+

^aThis table does not include the case of an additional patient who harbors MTOR E1799K (Ghahramani et al., ACMG 2015) due to lack of access to the patient's detailed clinical information

^bLarge for gestational age