Table 1.

Clinical presentation of our case

Physical Examination	Positive Findings
General appearance	Facial dysmorphism and stunted growth
Anthropometry	Height -2.2 SDS, Weight -4 SDS
Skin	Dry skin and mild dehydration
Abdominal	Liver ≈ 5 cm below the costal margin and firm
Neuromuscular	Bilateral and symmetrically reduced muscle power (4/5) in both upper and lower limbs