Table 1.

Summary of clinical features of index patients (V.1 and V.2) in the family

Patient		V.1	V.2 (Proband)
Age of disease onset		At birth (congenital)	At birth (congenital)
Gender (male/female)		Male	Male
Age at death		5 months	22.5 months
Ethnic origin		Iranian	Iranian
Pregnancy duration		Full‐term	Full‐term
Polyhydramnios		−	−
Family history		−	+
Weight at birth		3.3 ± 0.2 kg	3.4 ± 0.2 kg
Head circumference at birth		29.9 cm (percentile <3)	30.1 cm (percentile <3)
Age of diagnosis		NA	18 months
Intellectual disability		NA	+
Intrauterine growth retardation (IUGR)		+	+
Irritability		+	+
Seizure (age at onset)		+ (4 months)	+ (18 months)
Visual findings		−	−
Electroencephalography		Mild abnormality	Mild abnormality
Motor findings	Spasticity	+	+
	Limb hypertonia	−	−
	Generalized hypotonia	+	+
	Deep tendon reflexes	NA	NA
Developmental milestones	Gross motor function	Delayed	Delayed
	Fine motor function	Delayed	Delayed
	Language	NA	Delayed
	Cognitive	Delayed	Delayed
	Social interaction	ND	Delayed
MRI findings	Cerebellum	Hypoplasia	Hypoplasia
	Pons	Hypoplasia and loss of transverse fibers	Hypoplasia and loss of transverse fibers
	Cerebral cortex	Supratentorial/ infratentorial atrophy	Supratentorial/ infratentorial atrophy
	Ventricles	ex vacuo ventriculomegaly	ex vacuo ventriculomegaly
	White matter (WM)/gray matter	White and gray matter volume loss	White and gray matter volume loss
	Corpus callosum	Atrophy	Atrophy
Genetic finding		c.1170G>A/c.1170G>A	c.1170G>A/c.1170G>A

Abbreviations: NA, not applicable; ND, no data.