TABLE 1.

Clinical description of the two patients with the p.P809L variant in EHMT1 and correlation with previously reported phenotypes in Kleefstra syndrome

The symbols + and − indicate that the phenotype is present or absent respectively. N/R indicates that the phenotype was not reported or not evaluated.

	Patient 1	Patient 2
Current age (years)	4	16
Sex	Female	Female
Race/ethnicity	White	African American
Height	93.5 cm (∼50th percentile at 3 years)	146 cm (<5th percentile at 14.5 years)
Weight	15.4 kg (∼75th percentile at 3 years)	35.1 kg (<5th percentile at 14.5 years)
Head circumference	49.0 cm (∼60th percentile at 3 years)	53 cm (∼25th percentile at 14.5 years)
Intellectual disability	+	+
Speech delay	+	+
Childhood hypotonia	+	+
Microcephaly	−	+
Short stature	−	+
Overweight	+	−
Brachycephaly	−	+
Midface hypoplasia	−	+
Coarse facies	+	+
Hypertelorism	−	+
Synophrys	−	+
Arched eyebrows	−	−
Short nose	−	−
Anteverted nostrils	−	−
Macroglossia	−	−
Cupid bow upper lip	−	+
Thick/everted lower lip	−	−
Pointed chin	+	−
Dysplastic ear helices	+	−
Brachydactyly	−	−
Cardiac anomaly	+	+
Renal anomaly	N/R	+
Behavioral problems	+	+
Hearing loss	−	−
Seizures	−	−
Brain MRI findings	No structural abnormalities noted; normal MRI	Bilateral increased asymmetric T2 and FLAIR signal in the periventricular and peritrigonal regions and scattered white matter changes in the centrum semi-ovale, which could either be due to gliosis or related to dysmyelination
Additional features	Aberrant right subclavian artery and ASD, tracheomalacia, long tubular epiglottis, tonsillar hypertrophy, sleep apnea, GERD, chronic lung disease, cerebral ataxia, diastasis recti, hypermobility, monocular elevation palsy/deficiency, blue sclera, exotropia of the left eye, sensory processing disorder	Left kidney upper pole defect, left extra numerary nipple, fifth finger clinodactyly noted, reduced extension at elbow, upper and lower extremities are symmetrical, bilateral pes planus, two café-au-lait macules on upper abdomen