UFM1

Professionals

Clinical features
Mutations in UFM1 cause a multiple congenital anomaly syndrome with prominent features of profound global developmental delay, intellectual disability, failure to thrive, axial and appendicular hypotonia, seizures, and progressive microcephaly. Other features are more variable and include subtle facial dysmorphism, perceptive hearing loss, and/or blindness. Most patients die within the first years of life.

Prevalence
The prevalence of UFM1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.

Inheritance
UFM1-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.