“…Megaconial CMD is an autosomal recessive disorder, nearly 40 patients of which have been identified in the literature to date, with the majority being of Turkish origin [Haliloglu et al, 2015]. The most common manifestations are neonatal/infantile-onset hypotonia, progressive generalized muscle weakness, autistic behavior, intellectual disability, ichthyosis-like skin manifestations, and cardiomyopathy [Kutluk et al, 2020;Bardhan et al, 2021]. Most patients have mildly elevated serum CK levels [Kutluk et al, 2020], while rare manifestations include seizures, severe mental retardation, hearing loss, dysmorphic facial features (long facial appearance, upwardcurved palpebral space, hypertelorism, flattening above the eye, deep sunken eyes, nasal bridge, low-set ears, wide and protruding lower lip, low hairline) and microcephaly [Haliloglu et al, 2015].…”