Families

Clinical features
Mutations in TAF2cause an autosomal-recessive severe neurodevelopmental disorder. It is characterized by developmental delay, severe intellectual disability, feeding difficulties, spasticity, microcephaly, anomalies of corpus callosum.

Prevalence
The prevalence of the TAF2-related condition cannot be ascertained with precision due to the limited number of cases identified to date.

Inheritance
The TAF2-related condition is inherited in an autosomal recessive manner.