Table 2.

Phenotypic features

WHS clinical features	Patient 1	Patient 2	Patient 3	Boczek et al. 2018	Lozier et al. 2018	Derar et al. 2018 Patient 1	Derar et al. 2018 Patient 2
Age at assessment	26 mo	18 mo	5 yr	3 yr	16 mo	5 yr	34 mo
Characteristic facies	+	+	+	+	+	+	+
Developmental delay	+	+	+	+	+	+	+
Poor weight gain	+	+	-	+	+	+	+
Hypotonia	+	+ (mild)	+ (mild)	+	+	+	+
Apparent intellectual disability	NR	+	+	NR	+	+	+
Intrauterine growth restriction (IUGR)	+	+	+	+	-	+	+
Microcephaly	+	+	-	+	+	+	+
Postnatal growth deficiency	+	+	-	+	+	+	+
Short stature	+	+	-	+	+	+	+
Nonclassical WHS features
Autism spectrum disorder (ASD)	NR	NR	+	NR	NR	NR	NR
Constipation	+	-	+	+	NR	NR	NR
Pancreatic insufficiency	NR	+	NR	NR	NR	NR	NR
Bilateral renal hypoplasia	-	+	NR	NR	-	NR	NR

An indication of whether each patient was positive (+), negative (−) for each feature is provided as well as if the feature was not reported (NR).