A Novel Variant in VPS13B Underlying Cohen Syndrome

Table 1

Clinical details of the affected individuals.

Patient features	V : 1	V : 3	VI : 1	VI : 2
Sex	Male	Female	Male	Female
Consanguinity of parents	First cousin		First cousin
Age (years)	13	7	14	5
Height (cm)	150	117	136	88
Age at first words (months)	20	19	20	19
Age at walking (months)	32	28	33	28
Intellectual disability	Moderate	Moderate	Moderate	Moderate
Microcephaly	+	+	+	+
Neutropenia	+	+	+	+
Hypotonia	-	-	-	+
Motor delay	-	-	+	+
Speech delay	+	+	+	+
Muscular atrophy	-	-	-	+
Insomnia/sleep disturbances	-	-	-	+
Neonatal feeding difficulties	+	+	+	+
Strabismus	+	-	-	+
Wave shape eyelid	+	+	+	+
Long and thick eyelashes	+	+	+	+
Large ear	+	+	+	+
Prominent nose root	+	+	+	+
Prominent upper central incisors	+	+	+	+
Narrow roof mouth	+	+	+	+
Short philtrum	+	+	+	+
Truncal obesity	+	+	+	+
Small hands, feet, and fingers	-	+	-	+

+ Present, - absent.