PUS3

Professionals

Clinical features
Autosomal recessive mutations in the PUS3 gene cause autosomal recessive mental retardation-55, which is characterized by severe intellectual disability, failure to thrive, global developmental delay, microcephaly, and various brain structural abnormalities. Other clinical features include coarse facies, Mongolian spots, grey sclerae, and strabismus.

Prevalence
The prevalence of PUS3-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.

Inheritance
PUS3-related disorders are inherited in an autosomal recessive manner.