Clinical features
Mutations in the ADAT3 gene cause autosomal recessive mental retardation-36. Mental retardation, or intellectual disability, was defined as an IQ of less than 70 in the cited studies.
Prevalence
The prevalence of ADAT3-related conditions cannot be ascertained with precision due to the limited number of cases identified to date.
Inheritance
ADAT3-related disorder is inherited in an autosomal recessive manner.