Clinical features
Pathogenic homozygous variants in CTU2 have been documented to cause microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome (MFRG). This autosomal recessive disorder is as the name describes microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia. Other variable features including brain, cardiac, and skeletal anomalies may be present.
Prevalence
The prevalence of CTU2-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
CTU2-related multiple congenital anomaly syndrome is inherited in an autosomal recessive manner.
CTU2