Table 1. Clinical findings observed in the proband and families reported earlier.

Clinical findings	Present study	Shukla et al, 2017
		Family 1		Family 2
	III.1	II.3	II.4	II.1	II.2
Sex	Male	Female	Male	Female	Male
Age at assessment	6 mo	9 mo	8 mo	7 mo	1 y 11 mo
Age at demise	NA	1 y 7 mo	5 y	11 mo	2 y 3 mo
Birth weight (kg)	2.6	3	3.6	2.5	2.7
Weight (kg/SD)	6.5 (normal)	7/–1	NA	6.4/–2	5.8/–6
Length (cm/SD)	66 (normal)	63/–1	NA	NA	76/–5
OFC (cm/SD)	40.5/–2	41/–2	42/–2	42.5/–1	43.5/–6
Seizures	+	+	+	+	+
Onset of seizures	3 mo	NA	4 mo	3 mo	2 mo
Developmental delay	+	+	+	+	+
Milestones achieved	Social smile sometimes		Partial head control		No milestones achieved
Feeding difficulty	–	+	+	+	+
Tone	Spasticity	Spasticity	Spasticity	Spasticity	Spasticity
Deep tendon reflexes	Normal	Exaggerated	Exaggerated	Exaggerated	Exaggerated
Strabismus	–	+	–	–	+
Other clinical findings	–	History of incessant cry, nystagmus	History of incessant cry, tremors in hands	–	–
Pachygyria	+	+	+	NA	–
Cerebral white matter abnormalities	+	+	+	+	+
Cerebellar white matter abnormalities	+	+	+	+	+
Cerebral ventriculomegaly	+	+	+	+ a	+
MRS findings	Elevated lactate peak	Elevated lactate peak	Elevated lipid-lactate peak	NA	Elevated lipid-lactate peak
EEG findings	NA	Normal	NA	Abnormal	Normal
Ophthalmological findings	NA	Normal VEP and fundus	Stippled pigmentation of fundus	NA	NA
Hearing evaluation	Normal	NA	NA	Impaired	Normal
Blood lactate (mg/dL)	NA	20.7	36	65.8	40.5
CPK (normal: 22–198 U/L)	NA	132	568	NA	42

Abbreviations: +, present; −, absent; CPK, creatine phosphokinase; EEG, electroencephalogram; MRI, magnetic resonance imaging; MRS, magnetic resonance spectroscopy; NA, not available; OFC, occipitofrontal circumference; SD, standard deviation; VEP, visual evoked potential.

^aObserved on computed tomography.