Table 3.

Previous publications in which additional neurodevelopmental findings were also reported in patients with hexokinase deficiency-related non-spherocytic hemolytic anemia

Publication	Goebel et al. [31]	Gilsanz et al. [32]	Magnani et al. [33]	Kanno et al. [3]	Koralkova et al. [14]
Hemolytic anemia	+	+	+	+	+
Additional findings	Dysmorphic findings	Dysmorphic findings Mild MR Short stature Hearing problem	Hypertonia and opisthotonos DTR↓ Psychomotor retardation HSM	IUGR Periventricular leucomalacia	Psychomotor retardation Epilepsy (CNS bleeding?)
Hexokinase deficiency	+	+	+a	+a	+
HK1 variant & Inheritance	?	?	?	c.493-481_1028+454del & AR	c.278 A > G (p.(Arg94Gln)) & AR

MR mental retardation, DTR deep tendon reflex, HSM hepatosplenomegaly, IUGR intrauterine growth retardation, CNS central nervous system, AR autosomal recessive

Variants are numbered according to NM_033496.2

^aThese patients’ heterozygous parents also had diminished hexokinase activity without any phenotypic manifestation