Neurological:
• Intellectual disability
• Profound global developmental delay
• Axial and appendicular hypotonia
• Seizures
• MRI may show delayed myelination and/or cerebellar hypoplasia. Small caudate and putamen and cerebral atrophy have also been described in literature.
Head and Neck:
• Progressive Microcephaly
• Subtle facial dysmorphism (seen in some cases)
• Hearing loss (some cases)
• Ocular features (Blindness, nystagmus, strabismus) (some cases)
Patients eventually develop respiratory insufficiency requiring ventilation and feeding difficulties requiring a feeding tube. Most patients die in the first few years of life.
UFM1