Clinical features
Mutations in UFC1 cause a multiple congenital anomaly syndrome with prominent features of axial hypotonia, intellectual disability, global developmental delay, failure to thrive, peripheral spasticity with hyperreflexia. Other features are more variable and include microcephaly, contractures, subtle facial dysmorphism, and oculomotor apraxia. Seizures were observed in about half of the reported cases.

The prevalence of UFC1-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.

UFC1-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.