The primary clinical features include:
• Congenital muscular dystrophy with hypotonia
• Delayed motor milestones
• Brain malformations (e.g., cobblestone lissencephaly, ventriculomegaly)
• Intellectual disability
• Seizures
• Eye abnormalities (e.g., myopia, retinal defects)
• Feeding difficulties
The clinical severity varies significantly, with some individuals presenting with profound neurological impairment.
Recent literature highlights:
• Wide variability in neuroimaging findings
• Genotype-phenotype correlations
• Overlap between severe congenital forms and milder limb-girdle muscular dystrophy (LGMD)-like phenotypes
RXYLT1