UFM1

Clinical Characteristics

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.