Angelman-Like Syndrome: A Genetic Approach to Diagnosis with Illustrative Cases

Table 2

Differentiating clinical features among Angelman-like Syndromes.

	AS	Rett	MWS	FOXG1	KS	PMS	PHS	CS	CDKL5	MEF2C	ARTX
Microcephaly	+	+	+	+	+		+	+	+	+	+
Seizure	+	+	+	+	+		+	+	+	+
Speech impairment	+	+	+	+	+	+	+	+		+	+
Ataxia	+	+					+	+		+
Stereotypical hand movements	+/−	+		+			+		+	+
Tremulous/jerky limb movements	+
Happy predisposition	+	+	+				+				+
Abnormal MRI			+	+		+	+	+
Hyperventilation/apnea episode		+					+
Sleep disturbances	+	+		+	+	+
Hirschsprung disease			+
Lack of purposeful hand use		+
Prominent jaw/chin	+		+
Wide mouth	+		+				+
Upturned ear lobes			+
Genital anomalies					+						+
Congenital heart disease			+		+						+
Developmental regression		+				+		+
Others		In female only				Mild overgrowth	Persistent finger pad; Constipation	In male only			In male only; HbH in blood smear

AS: Angelman Syndrome; MWS: Mowat-Wilson Syndrome; KS: Kleefstra Syndrome; PMS: Phelan-McDermid Syndrome; PHS: Pitt-Hopkins Syndrome; CS: Christianson Syndrome; ARTX: alpha-thalassemia/intellectual disability syndrome.